Canonical Allele Identifier: CA375315507

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398483G>C (hg19) ; chr9:g.131523096G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523096G>C , CM000671.2:g.131523096G>C	GRCh38
NC_000009.11:g.134398483G>C , CM000671.1:g.134398483G>C	GRCh37
NC_000009.10:g.133388304G>C	NCBI36
NG_008896.1:g.25195G>C
NG_008896.2:g.25195G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.2006G>C	ENSP00000343034.7:p.Arg669Pro
ENST00000404875.7:n.2708G>C
ENST00000423007.6:c.2225G>C	ENSP00000404119.2:p.Arg742Pro
ENST00000677295.2:c.*2512G>C	ENSP00000504346.2:n.*2512G>C
ENST00000678264.2:c.*2351G>C	ENSP00000503157.2:n.*2351G>C
ENST00000682070.1:n.2478G>C
ENST00000682639.1:c.165G>C
ENST00000682813.1:n.2565G>C
ENST00000683231.1:c.165G>C
ENST00000683392.1:n.4760G>C
ENST00000683712.1:n.2573G>C
ENST00000683900.1:n.4068G>C
ENST00000684062.1:n.2834G>C
ENST00000684399.1:c.165G>C
ENST00000684579.1:n.4014G>C
ENST00000341012.12:c.2006G>C	ENSP00000343034.7:p.Arg669Pro
ENST00000372220.5:c.1037G>C	ENSP00000361294.5:p.Arg346Pro
ENST00000372228.9:c.2234G>C	ENSP00000361302.3:p.Arg745Pro
ENST00000402686.8:c.2168G>C MANE Select	ENSP00000385797.4:p.Arg723Pro
ENST00000676640.1:c.2168G>C	ENSP00000503281.1:p.Arg723Pro
ENST00000676803.1:c.1229G>C	ENSP00000503093.1:p.Arg410Pro
ENST00000676835.1:c.*1383G>C	ENSP00000502911.1:n.*1383G>C
ENST00000677029.1:c.1712G>C	ENSP00000502936.1:p.Arg571Pro
ENST00000677099.1:c.*1878G>C	ENSP00000504553.1:n.*1878G>C
ENST00000677216.1:c.1817G>C	ENSP00000503772.1:p.Arg606Pro
ENST00000677295.1:c.*1390G>C	ENSP00000504346.1:n.*1390G>C
ENST00000677444.1:c.2113G>C
ENST00000677586.1:n.1535G>C
ENST00000677626.1:c.1817G>C	ENSP00000503552.1:p.Arg606Pro
ENST00000677853.1:c.*1176G>C	ENSP00000503488.1:n.*1176G>C
ENST00000678264.1:c.*1545G>C	ENSP00000503157.1:n.*1545G>C
ENST00000678303.1:c.2078G>C	ENSP00000503696.1:p.Arg693Pro
ENST00000678366.1:c.*2417G>C	ENSP00000504353.1:n.*2417G>C
ENST00000678546.1:c.*2113G>C	ENSP00000503062.1:n.*2113G>C
ENST00000678548.1:c.*2307G>C	ENSP00000503934.1:n.*2307G>C
ENST00000678626.1:n.2004G>C
ENST00000678739.1:c.*2334G>C	ENSP00000503806.1:n.*2334G>C
ENST00000678833.1:c.*1920G>C	ENSP00000503893.1:n.*1920G>C
ENST00000679023.1:c.2006G>C	ENSP00000503718.1:p.Arg669Pro
ENST00000679076.1:c.1787G>C
ENST00000679111.1:c.*924G>C	ENSP00000504257.1:n.*924G>C
ENST00000679189.1:c.1817G>C	ENSP00000503356.1:p.Arg606Pro
ENST00000341012.11:c.2006G>C	ENSP00000343034.7:p.Arg669Pro
ENST00000372220.4:c.1031G>C	ENSP00000361294.4:p.Arg344Pro
ENST00000372228.7:c.2234G>C	ENSP00000361302.3:p.Arg745Pro
ENST00000402686.7:c.2168G>C	ENSP00000385797.3:p.Arg723Pro
ENST00000404875.6:c.1817G>C	ENSP00000384531.2:p.Arg606Pro
ENST00000423007.5:c.2168G>C	ENSP00000404119.1:p.Arg723Pro
ENST00000485278.5:n.2718G>C
NM_001077365.1:c.2168G>C	NP_001070833.1:p.Arg723Pro
NM_001077366.1:c.2006G>C	NP_001070834.1:p.Arg669Pro
NM_001136113.1:c.2168G>C	NP_001129585.1:p.Arg723Pro
NM_001136114.1:c.1817G>C	NP_001129586.1:p.Arg606Pro
NM_007171.3:c.2234G>C	NP_009102.3:p.Arg745Pro
XM_005272156.1:c.2234G>C	XP_005272213.1:p.Arg745Pro
XM_005272158.1:c.2072G>C	XP_005272215.1:p.Arg691Pro
XM_005272159.1:c.1883G>C	XP_005272216.1:p.Arg628Pro
XM_005272162.1:c.1037G>C	XP_005272219.1:p.Arg346Pro
XM_006716932.1:c.1883G>C	XP_006716995.1:p.Arg628Pro
XM_011518140.1:c.2087G>C	XP_011516442.1:p.Arg696Pro
XM_011518141.1:c.2021G>C	XP_011516443.1:p.Arg674Pro
XM_011518142.1:c.1925G>C	XP_011516444.1:p.Arg642Pro
XM_011518143.1:c.1919G>C	XP_011516445.1:p.Arg640Pro
XM_011518145.1:c.1778G>C	XP_011516447.1:p.Arg593Pro
XM_011518147.1:c.1106G>C	XP_011516449.1:p.Arg369Pro
XR_929703.1:n.2410G>C
NM_001353193.1:c.2234G>C	NP_001340122.1:p.Arg745Pro
NM_001353194.1:c.2006G>C	NP_001340123.1:p.Arg669Pro
NM_001353195.1:c.1817G>C	NP_001340124.1:p.Arg606Pro
NM_001353196.1:c.2078G>C	NP_001340125.1:p.Arg693Pro
NM_001353197.1:c.2072G>C	NP_001340126.1:p.Arg691Pro
NM_001353198.1:c.2072G>C	NP_001340127.1:p.Arg691Pro
NM_001353199.1:c.1883G>C	NP_001340128.1:p.Arg628Pro
NM_001353200.1:c.1712G>C	NP_001340129.1:p.Arg571Pro
NR_148391.1:n.2218G>C
NR_148392.1:n.2436G>C
NR_148393.1:n.2357G>C
NR_148394.1:n.2111G>C
NR_148395.1:n.2509G>C
NR_148396.1:n.2143G>C
NR_148397.1:n.2268G>C
NR_148398.1:n.2223G>C
NR_148399.1:n.2749G>C
NR_148400.1:n.2348G>C
XM_005272162.3:c.1037G>C	XP_005272219.1:p.Arg346Pro
XM_006716932.2:c.1883G>C	XP_006716995.1:p.Arg628Pro
XM_011518140.2:c.2087G>C	XP_011516442.1:p.Arg696Pro
XM_011518141.2:c.2021G>C	XP_011516443.1:p.Arg674Pro
XM_011518142.2:c.1925G>C	XP_011516444.1:p.Arg642Pro
XM_011518143.2:c.1919G>C	XP_011516445.1:p.Arg640Pro
XM_011518145.2:c.1778G>C	XP_011516447.1:p.Arg593Pro
XM_017014205.2:c.1037G>C	XP_016869694.1:p.Arg346Pro
XM_024447380.1:c.1037G>C	XP_024303148.1:p.Arg346Pro
XM_024447381.1:c.1343G>C	XP_024303149.1:p.Arg448Pro
XM_024447382.1:c.1037G>C	XP_024303150.1:p.Arg346Pro
XR_001746160.2:n.2338G>C
XR_001746162.2:n.2543G>C
XR_001746164.1:n.2260G>C
XR_001746166.2:n.2555G>C
NM_001077365.2:c.2168G>C MANE Select	NP_001070833.1:p.Arg723Pro
NM_001077366.2:c.2006G>C	NP_001070834.1:p.Arg669Pro
NM_001136113.2:c.2168G>C	NP_001129585.1:p.Arg723Pro
NM_001136114.2:c.1817G>C	NP_001129586.1:p.Arg606Pro
NM_001353193.2:c.2234G>C	NP_001340122.2:p.Arg745Pro
NM_001353194.2:c.2006G>C	NP_001340123.1:p.Arg669Pro
NM_001353195.2:c.1817G>C	NP_001340124.1:p.Arg606Pro
NM_001353196.2:c.2078G>C	NP_001340125.1:p.Arg693Pro
NM_001353197.2:c.2072G>C	NP_001340126.2:p.Arg691Pro
NM_001353198.2:c.2072G>C	NP_001340127.2:p.Arg691Pro
NM_001353199.2:c.1883G>C	NP_001340128.2:p.Arg628Pro
NM_001353200.2:c.1712G>C	NP_001340129.1:p.Arg571Pro
NM_001374689.1:c.2156G>C	NP_001361618.1:p.Arg719Pro
NM_001374690.1:c.1949G>C	NP_001361619.1:p.Arg650Pro
NM_001374691.1:c.1817G>C	NP_001361620.1:p.Arg606Pro
NM_001374692.1:c.1817G>C	NP_001361621.1:p.Arg606Pro
NM_001374693.1:c.1817G>C	NP_001361622.1:p.Arg606Pro
NM_001374695.1:c.1778G>C	NP_001361624.1:p.Arg593Pro
NM_007171.4:c.2234G>C	NP_009102.4:p.Arg745Pro
NR_148391.2:n.2202G>C
NR_148392.2:n.2420G>C
NR_148393.2:n.2341G>C
NR_148394.2:n.2095G>C
NR_148395.2:n.2493G>C
NR_148396.2:n.2127G>C
NR_148397.2:n.2252G>C
NR_148398.2:n.2207G>C
NR_148399.2:n.2733G>C
NR_148400.2:n.2332G>C