Canonical Allele Identifier: CA6988801

Gene: ATP7B

Linked Data

• dbSNP Id: rs763143749
• ExAC: 13:52518364 C / A
• gnomAD v2: 13-52518364-C-A
• MyVariant Identifiers: chr13:g.52518364C>A (hg19) ; chr13:g.51944228C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944228C>A , CM000675.2:g.51944228C>A	GRCh38
NC_000013.10:g.52518364C>A , CM000675.1:g.52518364C>A	GRCh37
NC_000013.9:g.51416365C>A	NCBI36
NG_008806.1:g.72267G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1674G>T	ENSP00000489512.2:n.*894-1674G>T
ENST00000673864.2:c.*1868G>T	ENSP00000501045.2:n.*1868G>T
ENST00000674147.2:c.2503G>T	ENSP00000500964.2:p.Val835Leu
ENST00000242839.10:c.3124G>T MANE Select	ENSP00000242839.5:p.Val1042Leu
ENST00000344297.9:c.2503G>T	ENSP00000342559.5:p.Val835Leu
ENST00000400366.6:c.2791G>T	ENSP00000383217.3:p.Val931Leu
ENST00000448424.7:c.2872G>T	ENSP00000416738.3:p.Val958Leu
ENST00000673772.1:c.2890G>T	ENSP00000501168.1:p.Val964Leu
ENST00000673867.1:n.3263G>T
ENST00000674126.1:n.3487G>T
ENST00000674147.1:c.2059G>T	ENSP00000500964.1:p.Val687Leu
ENST00000242839.8:c.3124G>T	ENSP00000242839.4:p.Val1042Leu
ENST00000344297.8:c.2503G>T	ENSP00000342559.5:p.Val835Leu
ENST00000400366.5:c.2791G>T	ENSP00000383217.3:p.Val931Leu
ENST00000400370.8:c.1834G>T	ENSP00000383221.3:p.Val612Leu
ENST00000418097.7:c.2929G>T	ENSP00000393343.2:p.Val977Leu
ENST00000448424.6:c.2890G>T	ENSP00000416738.2:p.Val964Leu
ENST00000466629.1:n.344G>T
ENST00000634296.1:c.1022-1674G>T
ENST00000634308.1:c.*225G>T	ENSP00000489234.1:n.*225G>T
ENST00000634620.1:n.3868G>T
ENST00000634810.1:n.2469G>T
ENST00000634844.1:c.2980G>T	ENSP00000489398.1:p.Val994Leu
ENST00000635406.1:n.470G>T
NM_000053.3:c.3124G>T	NP_000044.2:p.Val1042Leu
NM_001005918.2:c.2503G>T	NP_001005918.1:p.Val835Leu
NM_001243182.1:c.2791G>T	NP_001230111.1:p.Val931Leu
XM_005266423.2:c.3028G>T	XP_005266480.1:p.Val1010Leu
XM_005266424.3:c.3028G>T	XP_005266481.1:p.Val1010Leu
XM_005266427.2:c.2890G>T	XP_005266484.1:p.Val964Leu
XM_005266428.1:c.2872G>T	XP_005266485.1:p.Val958Leu
XM_005266430.3:c.3124G>T	XP_005266487.1:p.Val1042Leu
XM_005266431.2:c.3088G>T	XP_005266488.1:p.Val1030Leu
XM_005266432.2:c.2638G>T	XP_005266489.1:p.Val880Leu
XM_006719837.2:c.3028G>T	XP_006719900.1:p.Val1010Leu
XM_006719838.1:c.940G>T	XP_006719901.1:p.Val314Leu
XM_006719839.1:c.877-1674G>T	XP_006719902.1:n.877-1674G>T
XM_011535117.1:c.3028G>T	XP_011533419.1:p.Val1010Leu
XM_011535118.1:c.2989G>T	XP_011533420.1:p.Val997Leu
XM_011535119.1:c.3061-1674G>T	XP_011533421.1:n.3061-1674G>T
XM_011535120.1:c.2710G>T	XP_011533422.1:p.Val904Leu
XM_011535121.1:c.2731-1674G>T	XP_011533423.1:n.2731-1674G>T
XM_011535122.1:c.1792G>T	XP_011533424.1:p.Val598Leu
XR_941601.1:n.3343G>T
XR_941602.1:n.3343G>T
XR_941603.1:n.3343G>T
XR_941604.1:n.3343G>T
NM_001330578.1:c.2890G>T	NP_001317507.1:p.Val964Leu
NM_001330579.1:c.2872G>T	NP_001317508.1:p.Val958Leu
XM_005266424.4:c.3028G>T	XP_005266481.1:p.Val1010Leu
XM_005266430.4:c.3124G>T	XP_005266487.1:p.Val1042Leu
XM_005266431.4:c.3088G>T	XP_005266488.1:p.Val1030Leu
XM_006719837.3:c.3028G>T	XP_006719900.1:p.Val1010Leu
XM_011535117.3:c.3028G>T	XP_011533419.1:p.Val1010Leu
XM_017020627.1:c.3028G>T	XP_016876116.1:p.Val1010Leu
NM_000053.4:c.3124G>T MANE Select	NP_000044.2:p.Val1042Leu
NM_001005918.3:c.2503G>T	NP_001005918.1:p.Val835Leu
NM_001330579.2:c.2872G>T	NP_001317508.1:p.Val958Leu
NM_001243182.2:c.2791G>T	NP_001230111.1:p.Val931Leu
NM_001330578.2:c.2890G>T	NP_001317507.1:p.Val964Leu