Canonical Allele Identifier: CA2623119138

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51970854-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51970854C>A , CM000675.2:g.51970854C>A	GRCh38
NC_000013.10:g.52544990C>A , CM000675.1:g.52544990C>A	GRCh37
NC_000013.9:g.51442991C>A	NCBI36
NG_008806.1:g.45641G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.1286-105G>T	ENSP00000489512.2:n.1286-105G>T
ENST00000673864.2:c.*30-105G>T	ENSP00000501045.2:n.*30-105G>T
ENST00000674147.2:c.1286-105G>T	ENSP00000500964.2:n.1286-105G>T
ENST00000242839.10:c.1286-105G>T MANE Select	ENSP00000242839.5:n.1286-105G>T
ENST00000344297.9:c.1286-105G>T	ENSP00000342559.5:n.1286-105G>T
ENST00000400366.6:c.953-105G>T	ENSP00000383217.3:n.953-105G>T
ENST00000448424.7:c.1286-105G>T	ENSP00000416738.3:n.1286-105G>T
ENST00000483772.2:n.42-105G>T
ENST00000673772.1:c.1286-105G>T	ENSP00000501168.1:n.1286-105G>T
ENST00000673789.1:n.242-105G>T
ENST00000673864.1:c.480-105G>T	ENSP00000501045.1:n.480-105G>T
ENST00000674078.1:n.1391-109G>T
ENST00000674147.1:c.842-105G>T	ENSP00000500964.1:n.842-105G>T
ENST00000242839.8:c.1286-105G>T	ENSP00000242839.4:n.1286-105G>T
ENST00000344297.8:c.1286-105G>T	ENSP00000342559.5:n.1286-105G>T
ENST00000400366.5:c.953-105G>T	ENSP00000383217.3:n.953-105G>T
ENST00000400370.8:c.1285+3081G>T	ENSP00000383221.3:n.1285+3081G>T
ENST00000418097.7:c.1286-105G>T	ENSP00000393343.2:n.1286-105G>T
ENST00000448424.6:c.1286-105G>T	ENSP00000416738.2:n.1286-105G>T
ENST00000482841.6:n.1407-105G>T
ENST00000483772.1:n.42-105G>T
ENST00000634308.1:c.1286-105G>T	ENSP00000489234.1:n.1286-105G>T
ENST00000634844.1:c.1286-105G>T	ENSP00000489398.1:n.1286-105G>T
ENST00000635406.1:n.212-24376G>T
NM_000053.3:c.1286-105G>T	NP_000044.2:n.1286-105G>T
NM_001005918.2:c.1286-105G>T	NP_001005918.1:n.1286-105G>T
NM_001243182.1:c.953-105G>T	NP_001230111.1:n.953-105G>T
XM_005266423.2:c.1190-105G>T	XP_005266480.1:n.1190-105G>T
XM_005266424.3:c.1190-105G>T	XP_005266481.1:n.1190-105G>T
XM_005266427.2:c.1286-105G>T	XP_005266484.1:n.1286-105G>T
XM_005266428.1:c.1286-105G>T	XP_005266485.1:n.1286-105G>T
XM_005266430.3:c.1286-105G>T	XP_005266487.1:n.1286-105G>T
XM_005266431.2:c.1250-105G>T	XP_005266488.1:n.1250-105G>T
XM_005266432.2:c.1286-105G>T	XP_005266489.1:n.1286-105G>T
XM_006719837.2:c.1190-105G>T	XP_006719900.1:n.1190-105G>T
XM_011535117.1:c.1190-105G>T	XP_011533419.1:n.1190-105G>T
XM_011535118.1:c.1286-105G>T	XP_011533420.1:n.1286-105G>T
XM_011535119.1:c.1286-105G>T	XP_011533421.1:n.1286-105G>T
XM_011535120.1:c.1286-105G>T	XP_011533422.1:n.1286-105G>T
XM_011535121.1:c.1286-105G>T	XP_011533423.1:n.1286-105G>T
XM_011535122.1:c.-47-105G>T	XP_011533424.1:n.-47-105G>T
XR_941601.1:n.1505-105G>T
XR_941602.1:n.1505-105G>T
XR_941603.1:n.1505-105G>T
XR_941604.1:n.1505-105G>T
NM_001330578.1:c.1286-105G>T	NP_001317507.1:n.1286-105G>T
NM_001330579.1:c.1286-105G>T	NP_001317508.1:n.1286-105G>T
XM_005266424.4:c.1190-105G>T	XP_005266481.1:n.1190-105G>T
XM_005266430.4:c.1286-105G>T	XP_005266487.1:n.1286-105G>T
XM_005266431.4:c.1250-105G>T	XP_005266488.1:n.1250-105G>T
XM_006719837.3:c.1190-105G>T	XP_006719900.1:n.1190-105G>T
XM_011535117.3:c.1190-105G>T	XP_011533419.1:n.1190-105G>T
XM_017020627.1:c.1190-105G>T	XP_016876116.1:n.1190-105G>T
NM_000053.4:c.1286-105G>T MANE Select	NP_000044.2:n.1286-105G>T
NM_001005918.3:c.1286-105G>T	NP_001005918.1:n.1286-105G>T
NM_001330579.2:c.1286-105G>T	NP_001317508.1:n.1286-105G>T
NM_001243182.2:c.953-105G>T	NP_001230111.1:n.953-105G>T
NM_001330578.2:c.1286-105G>T	NP_001317507.1:n.1286-105G>T