Canonical Allele Identifier: CA6988638

Gene: ATP7B

Linked Data

• dbSNP Id: rs766800003
• ExAC: 13:52513329 C / T
• gnomAD v2: 13-52513329-C-T
• gnomAD v4: 13-51939193-C-T
• MyVariant Identifiers: chr13:g.52513329C>T (hg19) ; chr13:g.51939193C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939193C>T , CM000675.2:g.51939193C>T	GRCh38
NC_000013.10:g.52513329C>T , CM000675.1:g.52513329C>T	GRCh37
NC_000013.9:g.51411330C>T	NCBI36
NG_008806.1:g.77302G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1207G>A	ENSP00000489512.2:n.*1207G>A
ENST00000673864.2:c.*2301G>A	ENSP00000501045.2:n.*2301G>A
ENST00000674147.2:c.2936G>A	ENSP00000500964.2:p.Gly979Asp
ENST00000242839.10:c.3557G>A MANE Select	ENSP00000242839.5:p.Gly1186Asp
ENST00000344297.9:c.2936G>A	ENSP00000342559.5:p.Gly979Asp
ENST00000400366.6:c.3224G>A	ENSP00000383217.3:p.Gly1075Asp
ENST00000448424.7:c.3305G>A	ENSP00000416738.3:p.Gly1102Asp
ENST00000673696.1:n.798G>A
ENST00000673772.1:c.3323G>A	ENSP00000501168.1:p.Gly1108Asp
ENST00000673867.1:n.3696G>A
ENST00000673923.1:n.423G>A
ENST00000674147.1:c.2492G>A	ENSP00000500964.1:p.Gly831Asp
ENST00000242839.8:c.3557G>A	ENSP00000242839.4:p.Gly1186Asp
ENST00000344297.8:c.2936G>A	ENSP00000342559.5:p.Gly979Asp
ENST00000400366.5:c.3224G>A	ENSP00000383217.3:p.Gly1075Asp
ENST00000400370.8:c.2267G>A	ENSP00000383221.3:p.Gly756Asp
ENST00000418097.7:c.3362G>A	ENSP00000393343.2:p.Gly1121Asp
ENST00000448424.6:c.3323G>A	ENSP00000416738.2:p.Gly1108Asp
ENST00000634296.1:c.1335G>A
ENST00000634308.1:c.*658G>A	ENSP00000489234.1:n.*658G>A
ENST00000634620.1:n.4301G>A
ENST00000634810.1:n.2902G>A
ENST00000634844.1:c.3413G>A	ENSP00000489398.1:p.Gly1138Asp
NM_000053.3:c.3557G>A	NP_000044.2:p.Gly1186Asp
NM_001005918.2:c.2936G>A	NP_001005918.1:p.Gly979Asp
NM_001243182.1:c.3224G>A	NP_001230111.1:p.Gly1075Asp
XM_005266423.2:c.3461G>A	XP_005266480.1:p.Gly1154Asp
XM_005266424.3:c.3461G>A	XP_005266481.1:p.Gly1154Asp
XM_005266427.2:c.3323G>A	XP_005266484.1:p.Gly1108Asp
XM_005266428.1:c.3305G>A	XP_005266485.1:p.Gly1102Asp
XM_005266430.3:c.3557G>A	XP_005266487.1:p.Gly1186Asp
XM_005266431.2:c.3521G>A	XP_005266488.1:p.Gly1174Asp
XM_005266432.2:c.3071G>A	XP_005266489.1:p.Gly1024Asp
XM_006719837.2:c.3461G>A	XP_006719900.1:p.Gly1154Asp
XM_006719838.1:c.1373G>A	XP_006719901.1:p.Gly458Asp
XM_006719839.1:c.1190G>A	XP_006719902.1:p.Gly397Asp
XM_011535117.1:c.3461G>A	XP_011533419.1:p.Gly1154Asp
XM_011535118.1:c.3422G>A	XP_011533420.1:p.Gly1141Asp
XM_011535119.1:c.3374G>A	XP_011533421.1:p.Gly1125Asp
XM_011535120.1:c.3143G>A	XP_011533422.1:p.Gly1048Asp
XM_011535121.1:c.3044G>A	XP_011533423.1:p.Gly1015Asp
XM_011535122.1:c.2225G>A	XP_011533424.1:p.Gly742Asp
XR_941601.1:n.3776G>A
XR_941602.1:n.3776G>A
XR_941603.1:n.3776G>A
XR_941604.1:n.3776G>A
NM_001330578.1:c.3323G>A	NP_001317507.1:p.Gly1108Asp
NM_001330579.1:c.3305G>A	NP_001317508.1:p.Gly1102Asp
XM_005266424.4:c.3461G>A	XP_005266481.1:p.Gly1154Asp
XM_005266430.4:c.3557G>A	XP_005266487.1:p.Gly1186Asp
XM_005266431.4:c.3521G>A	XP_005266488.1:p.Gly1174Asp
XM_006719837.3:c.3461G>A	XP_006719900.1:p.Gly1154Asp
XM_011535117.3:c.3461G>A	XP_011533419.1:p.Gly1154Asp
XM_017020627.1:c.3461G>A	XP_016876116.1:p.Gly1154Asp
NM_000053.4:c.3557G>A MANE Select	NP_000044.2:p.Gly1186Asp
NM_001005918.3:c.2936G>A	NP_001005918.1:p.Gly979Asp
NM_001330579.2:c.3305G>A	NP_001317508.1:p.Gly1102Asp
NM_001243182.2:c.3224G>A	NP_001230111.1:p.Gly1075Asp
NM_001330578.2:c.3323G>A	NP_001317507.1:p.Gly1108Asp