Canonical Allele Identifier: CA10604272

Gene: POMT1

Linked Data

• ClinVar Variation Id: 282700
• ClinVar RCV Id: RCV000302034 ; RCV003258719
• dbSNP Id: rs886042459
• gnomAD v4: 9-131511451-G-A
• MyVariant Identifiers: chr9:g.134386838G>A (hg19) ; chr9:g.131511451G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131511451G>A , CM000671.2:g.131511451G>A	GRCh38
NC_000009.11:g.134386838G>A , CM000671.1:g.134386838G>A	GRCh37
NC_000009.10:g.133376659G>A	NCBI36
NG_008896.1:g.13550G>A
NG_008896.2:g.13550G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.808G>A	ENSP00000343034.7:p.Asp270Asn
ENST00000404875.7:n.1342G>A
ENST00000423007.6:c.1027G>A	ENSP00000404119.2:p.Asp343Asn
ENST00000677295.2:c.*1309G>A	ENSP00000504346.2:n.*1309G>A
ENST00000678264.2:c.*1153G>A	ENSP00000503157.2:n.*1153G>A
ENST00000678942.2:c.*523G>A	ENSP00000504690.2:n.*523G>A
ENST00000682070.1:n.1430G>A
ENST00000682813.1:n.1235G>A
ENST00000683134.1:c.337G>A
ENST00000683392.1:n.3717G>A
ENST00000683712.1:n.1370G>A
ENST00000683900.1:n.2297G>A
ENST00000684062.1:n.1636G>A
ENST00000684579.1:n.2811G>A
ENST00000341012.12:c.808G>A	ENSP00000343034.7:p.Asp270Asn
ENST00000372220.5:c.-145-590G>A	ENSP00000361294.5:n.-145-590G>A
ENST00000372228.9:c.1036G>A	ENSP00000361302.3:p.Asp346Asn
ENST00000402686.8:c.970G>A MANE Select	ENSP00000385797.4:p.Asp324Asn
ENST00000415075.6:c.*423G>A	ENSP00000405149.2:n.*423G>A
ENST00000676640.1:c.970G>A	ENSP00000503281.1:p.Asp324Asn
ENST00000676803.1:c.145G>A	ENSP00000503093.1:p.Asp49Asn
ENST00000676835.1:c.*180G>A	ENSP00000502911.1:n.*180G>A
ENST00000677029.1:c.514G>A	ENSP00000502936.1:p.Asp172Asn
ENST00000677099.1:c.*680G>A	ENSP00000504553.1:n.*680G>A
ENST00000677216.1:c.619G>A	ENSP00000503772.1:p.Asp207Asn
ENST00000677293.1:c.145G>A	ENSP00000504278.1:p.Asp49Asn
ENST00000677295.1:c.*342G>A	ENSP00000504346.1:n.*342G>A
ENST00000677444.1:c.776G>A
ENST00000677586.1:n.451G>A
ENST00000677626.1:c.808G>A	ENSP00000503552.1:p.Asp270Asn
ENST00000677677.1:n.930G>A
ENST00000677853.1:c.551G>A	ENSP00000503488.1:p.Gly184Glu
ENST00000677944.1:c.232G>A
ENST00000678264.1:c.*342G>A	ENSP00000503157.1:n.*342G>A
ENST00000678303.1:c.880G>A	ENSP00000503696.1:p.Asp294Asn
ENST00000678366.1:c.*1219G>A	ENSP00000504353.1:n.*1219G>A
ENST00000678546.1:c.*342G>A	ENSP00000503062.1:n.*342G>A
ENST00000678548.1:c.*1037G>A	ENSP00000503934.1:n.*1037G>A
ENST00000678626.1:n.662G>A
ENST00000678733.1:c.144G>A
ENST00000678739.1:c.*1291G>A	ENSP00000503806.1:n.*1291G>A
ENST00000678833.1:c.*417G>A	ENSP00000503893.1:n.*417G>A
ENST00000678942.1:c.145G>A	ENSP00000504690.1:p.Asp49Asn
ENST00000679023.1:c.808G>A	ENSP00000503718.1:p.Asp270Asn
ENST00000679073.1:c.348G>A	ENSP00000504356.1:n.348G>A
ENST00000679076.1:c.584G>A
ENST00000679111.1:c.970G>A	ENSP00000504257.1:p.Asp324Asn
ENST00000679189.1:c.619G>A	ENSP00000503356.1:p.Asp207Asn
ENST00000341012.11:c.808G>A	ENSP00000343034.7:p.Asp270Asn
ENST00000372228.7:c.1036G>A	ENSP00000361302.3:p.Asp346Asn
ENST00000402686.7:c.970G>A	ENSP00000385797.3:p.Asp324Asn
ENST00000404875.6:c.619G>A	ENSP00000384531.2:p.Asp207Asn
ENST00000415075.5:c.362G>A	ENSP00000405149.1:p.Gly121Glu
ENST00000423007.5:c.970G>A	ENSP00000404119.1:p.Asp324Asn
ENST00000441334.5:c.685G>A	ENSP00000395060.1:p.Asp229Asn
ENST00000462375.5:n.791G>A
ENST00000485278.5:n.952G>A
NM_001077365.1:c.970G>A	NP_001070833.1:p.Asp324Asn
NM_001077366.1:c.808G>A	NP_001070834.1:p.Asp270Asn
NM_001136113.1:c.970G>A	NP_001129585.1:p.Asp324Asn
NM_001136114.1:c.619G>A	NP_001129586.1:p.Asp207Asn
NM_007171.3:c.1036G>A	NP_009102.3:p.Asp346Asn
XM_005272156.1:c.1036G>A	XP_005272213.1:p.Asp346Asn
XM_005272158.1:c.874G>A	XP_005272215.1:p.Asp292Asn
XM_005272159.1:c.685G>A	XP_005272216.1:p.Asp229Asn
XM_005272162.1:c.-167G>A	XP_005272219.1:n.-167G>A
XM_006716932.1:c.685G>A	XP_006716995.1:p.Asp229Asn
XM_011518140.1:c.889G>A	XP_011516442.1:p.Asp297Asn
XM_011518141.1:c.823G>A	XP_011516443.1:p.Asp275Asn
XM_011518142.1:c.727G>A	XP_011516444.1:p.Asp243Asn
XM_011518143.1:c.716G>A	XP_011516445.1:p.Gly239Glu
XM_011518144.1:c.1036G>A	XP_011516446.1:p.Asp346Asn
XM_011518145.1:c.580G>A	XP_011516447.1:p.Asp194Asn
XM_011518146.1:c.716G>A	XP_011516448.1:p.Gly239Glu
XR_929703.1:n.1212G>A
NM_001353193.1:c.1036G>A	NP_001340122.1:p.Asp346Asn
NM_001353194.1:c.808G>A	NP_001340123.1:p.Asp270Asn
NM_001353195.1:c.619G>A	NP_001340124.1:p.Asp207Asn
NM_001353196.1:c.880G>A	NP_001340125.1:p.Asp294Asn
NM_001353197.1:c.874G>A	NP_001340126.1:p.Asp292Asn
NM_001353198.1:c.874G>A	NP_001340127.1:p.Asp292Asn
NM_001353199.1:c.685G>A	NP_001340128.1:p.Asp229Asn
NM_001353200.1:c.514G>A	NP_001340129.1:p.Asp172Asn
NR_148391.1:n.1020G>A
NR_148392.1:n.1238G>A
NR_148393.1:n.1020G>A
NR_148394.1:n.908G>A
NR_148395.1:n.1172G>A
NR_148396.1:n.801G>A
NR_148397.1:n.1065G>A
NR_148398.1:n.1020G>A
NR_148399.1:n.1412G>A
NR_148400.1:n.1006G>A
XM_005272162.3:c.-167G>A	XP_005272219.1:n.-167G>A
XM_006716932.2:c.685G>A	XP_006716995.1:p.Asp229Asn
XM_011518140.2:c.889G>A	XP_011516442.1:p.Asp297Asn
XM_011518141.2:c.823G>A	XP_011516443.1:p.Asp275Asn
XM_011518142.2:c.727G>A	XP_011516444.1:p.Asp243Asn
XM_011518143.2:c.716G>A	XP_011516445.1:p.Gly239Glu
XM_011518145.2:c.580G>A	XP_011516447.1:p.Asp194Asn
XM_017014205.2:c.-167G>A	XP_016869694.1:n.-167G>A
XM_024447380.1:c.-167G>A	XP_024303148.1:n.-167G>A
XM_024447381.1:c.145G>A	XP_024303149.1:p.Asp49Asn
XM_024447382.1:c.-167G>A	XP_024303150.1:n.-167G>A
XR_001746160.2:n.1140G>A
XR_001746162.2:n.1206G>A
XR_001746164.1:n.918G>A
XR_001746166.2:n.1357G>A
NM_001077365.2:c.970G>A MANE Select	NP_001070833.1:p.Asp324Asn
NM_001077366.2:c.808G>A	NP_001070834.1:p.Asp270Asn
NM_001136113.2:c.970G>A	NP_001129585.1:p.Asp324Asn
NM_001136114.2:c.619G>A	NP_001129586.1:p.Asp207Asn
NM_001353193.2:c.1036G>A	NP_001340122.2:p.Asp346Asn
NM_001353194.2:c.808G>A	NP_001340123.1:p.Asp270Asn
NM_001353195.2:c.619G>A	NP_001340124.1:p.Asp207Asn
NM_001353196.2:c.880G>A	NP_001340125.1:p.Asp294Asn
NM_001353197.2:c.874G>A	NP_001340126.2:p.Asp292Asn
NM_001353198.2:c.874G>A	NP_001340127.2:p.Asp292Asn
NM_001353199.2:c.685G>A	NP_001340128.2:p.Asp229Asn
NM_001353200.2:c.514G>A	NP_001340129.1:p.Asp172Asn
NM_001374689.1:c.953G>A	NP_001361618.1:p.Gly318Glu
NM_001374690.1:c.970G>A	NP_001361619.1:p.Asp324Asn
NM_001374691.1:c.619G>A	NP_001361620.1:p.Asp207Asn
NM_001374692.1:c.619G>A	NP_001361621.1:p.Asp207Asn
NM_001374693.1:c.808G>A	NP_001361622.1:p.Asp270Asn
NM_001374695.1:c.580G>A	NP_001361624.1:p.Asp194Asn
NM_007171.4:c.1036G>A	NP_009102.4:p.Asp346Asn
NR_148391.2:n.1004G>A
NR_148392.2:n.1222G>A
NR_148393.2:n.1004G>A
NR_148394.2:n.892G>A
NR_148395.2:n.1156G>A
NR_148396.2:n.785G>A
NR_148397.2:n.1049G>A
NR_148398.2:n.1004G>A
NR_148399.2:n.1396G>A
NR_148400.2:n.990G>A