Canonical Allele Identifier: CA278543

Gene: POMT1

Linked Data

• ClinVar Variation Id: 212739
• ClinVar RCV Id: RCV000192686 ; RCV002517157
• dbSNP Id: rs772370177
• MyVariant Identifiers: chr9:g.134385148G>A (hg19) ; chr9:g.131509761G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131509761G>A , CM000671.2:g.131509761G>A	GRCh38
NC_000009.11:g.134385148G>A , CM000671.1:g.134385148G>A	GRCh37
NC_000009.10:g.133374969G>A	NCBI36
NG_008896.1:g.11860G>A
NG_008896.2:g.11860G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.396G>A	ENSP00000343034.7:p.Trp132Ter
ENST00000404875.7:n.667G>A
ENST00000423007.6:c.549G>A	ENSP00000404119.2:p.Trp183Ter
ENST00000462375.7:n.113-142G>A
ENST00000677295.2:c.*634G>A	ENSP00000504346.2:n.*634G>A
ENST00000678264.2:c.*741G>A	ENSP00000503157.2:n.*741G>A
ENST00000678942.2:c.253G>A	ENSP00000504690.2:p.Val85Met
ENST00000682070.1:n.755G>A
ENST00000682813.1:n.560G>A
ENST00000683134.1:c.19G>A
ENST00000683392.1:n.3042G>A
ENST00000683712.1:n.695G>A
ENST00000683900.1:n.1622G>A
ENST00000684062.1:n.867G>A
ENST00000684579.1:n.2136G>A
ENST00000341012.12:c.396G>A	ENSP00000343034.7:p.Trp132Ter
ENST00000372220.5:c.-145-2280G>A	ENSP00000361294.5:n.-145-2280G>A
ENST00000372228.9:c.558G>A	ENSP00000361302.3:p.Trp186Ter
ENST00000402686.8:c.558G>A MANE Select	ENSP00000385797.4:p.Trp186Ter
ENST00000415075.6:c.*250-596G>A	ENSP00000405149.2:n.*250-596G>A
ENST00000430619.2:c.102G>A	ENSP00000402083.2:p.Trp34Ter
ENST00000462375.6:n.382G>A
ENST00000676640.1:c.558G>A	ENSP00000503281.1:p.Trp186Ter
ENST00000676803.1:c.-126-499G>A	ENSP00000503093.1:n.-126-499G>A
ENST00000676835.1:c.189-499G>A	ENSP00000502911.1:n.189-499G>A
ENST00000676915.1:c.411G>A	ENSP00000504628.1:p.Trp137Ter
ENST00000677028.1:c.*5G>A	ENSP00000503896.1:n.*5G>A
ENST00000677029.1:c.102G>A	ENSP00000502936.1:p.Trp34Ter
ENST00000677099.1:c.*268G>A	ENSP00000504553.1:n.*268G>A
ENST00000677216.1:c.207G>A	ENSP00000503772.1:p.Trp69Ter
ENST00000677293.1:c.-29-596G>A	ENSP00000504278.1:n.-29-596G>A
ENST00000677295.1:c.396G>A	ENSP00000504346.1:p.Trp132Ter
ENST00000677444.1:c.101G>A
ENST00000677586.1:n.181-499G>A
ENST00000677626.1:c.396G>A	ENSP00000503552.1:p.Trp132Ter
ENST00000677677.1:n.518G>A
ENST00000677729.1:c.*5G>A	ENSP00000503581.1:n.*5G>A
ENST00000677853.1:c.378-596G>A	ENSP00000503488.1:n.378-596G>A
ENST00000677944.1:c.59-596G>A
ENST00000678264.1:c.558G>A	ENSP00000503157.1:p.Trp186Ter
ENST00000678303.1:c.468G>A	ENSP00000503696.1:p.Trp156Ter
ENST00000678366.1:c.*741G>A	ENSP00000504353.1:n.*741G>A
ENST00000678546.1:c.396G>A	ENSP00000503062.1:p.Trp132Ter
ENST00000678548.1:c.*268G>A	ENSP00000503934.1:n.*268G>A
ENST00000678626.1:n.250G>A
ENST00000678693.1:n.241G>A
ENST00000678707.1:n.196G>A
ENST00000678739.1:c.*616G>A	ENSP00000503806.1:n.*616G>A
ENST00000678833.1:c.*5G>A	ENSP00000503893.1:n.*5G>A
ENST00000679023.1:c.396G>A	ENSP00000503718.1:p.Trp132Ter
ENST00000679076.1:c.269G>A
ENST00000679111.1:c.558G>A	ENSP00000504257.1:p.Trp186Ter
ENST00000679189.1:c.207G>A	ENSP00000503356.1:p.Trp69Ter
ENST00000341012.11:c.396G>A	ENSP00000343034.7:p.Trp132Ter
ENST00000372228.7:c.558G>A	ENSP00000361302.3:p.Trp186Ter
ENST00000402686.7:c.558G>A	ENSP00000385797.3:p.Trp186Ter
ENST00000404875.6:c.207G>A	ENSP00000384531.2:p.Trp69Ter
ENST00000415075.5:c.189-596G>A	ENSP00000405149.1:n.189-596G>A
ENST00000423007.5:c.558G>A	ENSP00000404119.1:p.Trp186Ter
ENST00000430619.1:c.207G>A	ENSP00000402083.1:p.Trp69Ter
ENST00000441334.5:c.207G>A	ENSP00000395060.1:p.Trp69Ter
ENST00000448212.5:c.396G>A	ENSP00000403736.1:p.Trp132Ter
ENST00000462375.5:n.116G>A
NM_001077365.1:c.558G>A	NP_001070833.1:p.Trp186Ter
NM_001077366.1:c.396G>A	NP_001070834.1:p.Trp132Ter
NM_001136113.1:c.558G>A	NP_001129585.1:p.Trp186Ter
NM_001136114.1:c.207G>A	NP_001129586.1:p.Trp69Ter
NM_007171.3:c.558G>A	NP_009102.3:p.Trp186Ter
XM_005272156.1:c.558G>A	XP_005272213.1:p.Trp186Ter
XM_005272158.1:c.396G>A	XP_005272215.1:p.Trp132Ter
XM_005272159.1:c.207G>A	XP_005272216.1:p.Trp69Ter
XM_005272162.1:c.-842G>A	XP_005272219.1:n.-842G>A
XM_006716932.1:c.207G>A	XP_006716995.1:p.Trp69Ter
XM_011518140.1:c.411G>A	XP_011516442.1:p.Trp137Ter
XM_011518141.1:c.411G>A	XP_011516443.1:p.Trp137Ter
XM_011518142.1:c.249G>A	XP_011516444.1:p.Trp83Ter
XM_011518143.1:c.304G>A	XP_011516445.1:p.Val102Met
XM_011518144.1:c.558G>A	XP_011516446.1:p.Trp186Ter
XM_011518145.1:c.102G>A	XP_011516447.1:p.Trp34Ter
XM_011518146.1:c.304G>A	XP_011516448.1:p.Val102Met
XR_929703.1:n.734G>A
NM_001353193.1:c.558G>A	NP_001340122.1:p.Trp186Ter
NM_001353194.1:c.396G>A	NP_001340123.1:p.Trp132Ter
NM_001353195.1:c.207G>A	NP_001340124.1:p.Trp69Ter
NM_001353196.1:c.468G>A	NP_001340125.1:p.Trp156Ter
NM_001353197.1:c.396G>A	NP_001340126.1:p.Trp132Ter
NM_001353198.1:c.396G>A	NP_001340127.1:p.Trp132Ter
NM_001353199.1:c.207G>A	NP_001340128.1:p.Trp69Ter
NM_001353200.1:c.102G>A	NP_001340129.1:p.Trp34Ter
NR_148391.1:n.608G>A
NR_148392.1:n.760G>A
NR_148393.1:n.608G>A
NR_148394.1:n.496G>A
NR_148395.1:n.760G>A
NR_148396.1:n.389G>A
NR_148397.1:n.653G>A
NR_148398.1:n.608G>A
NR_148399.1:n.1000G>A
NR_148400.1:n.594G>A
XM_005272162.3:c.-842G>A	XP_005272219.1:n.-842G>A
XM_006716932.2:c.207G>A	XP_006716995.1:p.Trp69Ter
XM_011518140.2:c.411G>A	XP_011516442.1:p.Trp137Ter
XM_011518141.2:c.411G>A	XP_011516443.1:p.Trp137Ter
XM_011518142.2:c.249G>A	XP_011516444.1:p.Trp83Ter
XM_011518143.2:c.304G>A	XP_011516445.1:p.Val102Met
XM_011518145.2:c.102G>A	XP_011516447.1:p.Trp34Ter
XM_017014205.2:c.-645G>A	XP_016869694.1:n.-645G>A
XM_024447380.1:c.-579G>A	XP_024303148.1:n.-579G>A
XM_024447381.1:c.-531G>A	XP_024303149.1:n.-531G>A
XM_024447382.1:c.-842G>A	XP_024303150.1:n.-842G>A
XR_001746160.2:n.728G>A
XR_001746162.2:n.728G>A
XR_001746164.1:n.506G>A
XR_001746166.2:n.682G>A
NM_001077365.2:c.558G>A MANE Select	NP_001070833.1:p.Trp186Ter
NM_001077366.2:c.396G>A	NP_001070834.1:p.Trp132Ter
NM_001136113.2:c.558G>A	NP_001129585.1:p.Trp186Ter
NM_001136114.2:c.207G>A	NP_001129586.1:p.Trp69Ter
NM_001353193.2:c.558G>A	NP_001340122.2:p.Trp186Ter
NM_001353194.2:c.396G>A	NP_001340123.1:p.Trp132Ter
NM_001353195.2:c.207G>A	NP_001340124.1:p.Trp69Ter
NM_001353196.2:c.468G>A	NP_001340125.1:p.Trp156Ter
NM_001353197.2:c.396G>A	NP_001340126.2:p.Trp132Ter
NM_001353198.2:c.396G>A	NP_001340127.2:p.Trp132Ter
NM_001353199.2:c.207G>A	NP_001340128.2:p.Trp69Ter
NM_001353200.2:c.102G>A	NP_001340129.1:p.Trp34Ter
NM_001374689.1:c.396G>A	NP_001361618.1:p.Trp132Ter
NM_001374690.1:c.558G>A	NP_001361619.1:p.Trp186Ter
NM_001374691.1:c.207G>A	NP_001361620.1:p.Trp69Ter
NM_001374692.1:c.207G>A	NP_001361621.1:p.Trp69Ter
NM_001374693.1:c.396G>A	NP_001361622.1:p.Trp132Ter
NM_001374695.1:c.102G>A	NP_001361624.1:p.Trp34Ter
NM_007171.4:c.558G>A	NP_009102.4:p.Trp186Ter
NR_148391.2:n.592G>A
NR_148392.2:n.744G>A
NR_148393.2:n.592G>A
NR_148394.2:n.480G>A
NR_148395.2:n.744G>A
NR_148396.2:n.373G>A
NR_148397.2:n.637G>A
NR_148398.2:n.592G>A
NR_148399.2:n.984G>A
NR_148400.2:n.578G>A