Canonical Allele Identifier: CA388026608

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1946981
• ClinVar RCV Id: RCV002685383
• MyVariant Identifiers: chr13:g.52515319C>T (hg19) ; chr13:g.51941183C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941183C>T , CM000675.2:g.51941183C>T	GRCh38
NC_000013.10:g.52515319C>T , CM000675.1:g.52515319C>T	GRCh37
NC_000013.9:g.51413320C>T	NCBI36
NG_008806.1:g.75312G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1104G>A	ENSP00000489512.2:n.*1104G>A
ENST00000673864.2:c.*2198G>A	ENSP00000501045.2:n.*2198G>A
ENST00000674147.2:c.2833G>A	ENSP00000500964.2:p.Glu945Lys
ENST00000242839.10:c.3454G>A MANE Select	ENSP00000242839.5:p.Glu1152Lys
ENST00000344297.9:c.2833G>A	ENSP00000342559.5:p.Glu945Lys
ENST00000400366.6:c.3121G>A	ENSP00000383217.3:p.Glu1041Lys
ENST00000448424.7:c.3202G>A	ENSP00000416738.3:p.Glu1068Lys
ENST00000673772.1:c.3220G>A	ENSP00000501168.1:p.Glu1074Lys
ENST00000673867.1:n.3593G>A
ENST00000674126.1:n.3817G>A
ENST00000674147.1:c.2389G>A	ENSP00000500964.1:p.Glu797Lys
ENST00000242839.8:c.3454G>A	ENSP00000242839.4:p.Glu1152Lys
ENST00000344297.8:c.2833G>A	ENSP00000342559.5:p.Glu945Lys
ENST00000400366.5:c.3121G>A	ENSP00000383217.3:p.Glu1041Lys
ENST00000400370.8:c.2164G>A	ENSP00000383221.3:p.Glu722Lys
ENST00000418097.7:c.3259G>A	ENSP00000393343.2:p.Glu1087Lys
ENST00000448424.6:c.3220G>A	ENSP00000416738.2:p.Glu1074Lys
ENST00000634296.1:c.1232G>A
ENST00000634308.1:c.*555G>A	ENSP00000489234.1:n.*555G>A
ENST00000634620.1:n.4198G>A
ENST00000634810.1:n.2799G>A
ENST00000634844.1:c.3310G>A	ENSP00000489398.1:p.Glu1104Lys
NM_000053.3:c.3454G>A	NP_000044.2:p.Glu1152Lys
NM_001005918.2:c.2833G>A	NP_001005918.1:p.Glu945Lys
NM_001243182.1:c.3121G>A	NP_001230111.1:p.Glu1041Lys
XM_005266423.2:c.3358G>A	XP_005266480.1:p.Glu1120Lys
XM_005266424.3:c.3358G>A	XP_005266481.1:p.Glu1120Lys
XM_005266427.2:c.3220G>A	XP_005266484.1:p.Glu1074Lys
XM_005266428.1:c.3202G>A	XP_005266485.1:p.Glu1068Lys
XM_005266430.3:c.3454G>A	XP_005266487.1:p.Glu1152Lys
XM_005266431.2:c.3418G>A	XP_005266488.1:p.Glu1140Lys
XM_005266432.2:c.2968G>A	XP_005266489.1:p.Glu990Lys
XM_006719837.2:c.3358G>A	XP_006719900.1:p.Glu1120Lys
XM_006719838.1:c.1270G>A	XP_006719901.1:p.Glu424Lys
XM_006719839.1:c.1087G>A	XP_006719902.1:p.Glu363Lys
XM_011535117.1:c.3358G>A	XP_011533419.1:p.Glu1120Lys
XM_011535118.1:c.3319G>A	XP_011533420.1:p.Glu1107Lys
XM_011535119.1:c.3271G>A	XP_011533421.1:p.Glu1091Lys
XM_011535120.1:c.3040G>A	XP_011533422.1:p.Glu1014Lys
XM_011535121.1:c.2941G>A	XP_011533423.1:p.Glu981Lys
XM_011535122.1:c.2122G>A	XP_011533424.1:p.Glu708Lys
XR_941601.1:n.3673G>A
XR_941602.1:n.3673G>A
XR_941603.1:n.3673G>A
XR_941604.1:n.3673G>A
NM_001330578.1:c.3220G>A	NP_001317507.1:p.Glu1074Lys
NM_001330579.1:c.3202G>A	NP_001317508.1:p.Glu1068Lys
XM_005266424.4:c.3358G>A	XP_005266481.1:p.Glu1120Lys
XM_005266430.4:c.3454G>A	XP_005266487.1:p.Glu1152Lys
XM_005266431.4:c.3418G>A	XP_005266488.1:p.Glu1140Lys
XM_006719837.3:c.3358G>A	XP_006719900.1:p.Glu1120Lys
XM_011535117.3:c.3358G>A	XP_011533419.1:p.Glu1120Lys
XM_017020627.1:c.3358G>A	XP_016876116.1:p.Glu1120Lys
NM_000053.4:c.3454G>A MANE Select	NP_000044.2:p.Glu1152Lys
NM_001005918.3:c.2833G>A	NP_001005918.1:p.Glu945Lys
NM_001330579.2:c.3202G>A	NP_001317508.1:p.Glu1068Lys
NM_001243182.2:c.3121G>A	NP_001230111.1:p.Glu1041Lys
NM_001330578.2:c.3220G>A	NP_001317507.1:p.Glu1074Lys