Canonical Allele Identifier: CA388030536

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52539088C>G (hg19) ; chr13:g.51964952C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51964952C>G , CM000675.2:g.51964952C>G	GRCh38
NC_000013.10:g.52539088C>G , CM000675.1:g.52539088C>G	GRCh37
NC_000013.9:g.51437089C>G	NCBI36
NG_008806.1:g.51543G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.1789G>C	ENSP00000489512.2:p.Val597Leu
ENST00000673864.2:c.*533G>C	ENSP00000501045.2:n.*533G>C
ENST00000674147.2:c.1789G>C	ENSP00000500964.2:p.Val597Leu
ENST00000242839.10:c.1789G>C MANE Select	ENSP00000242839.5:p.Val597Leu
ENST00000344297.9:c.1789G>C	ENSP00000342559.5:p.Val597Leu
ENST00000400366.6:c.1456G>C	ENSP00000383217.3:p.Val486Leu
ENST00000448424.7:c.1789G>C	ENSP00000416738.3:p.Val597Leu
ENST00000483772.2:n.545G>C
ENST00000673772.1:c.1789G>C	ENSP00000501168.1:p.Val597Leu
ENST00000673864.1:c.983G>C	ENSP00000501045.1:n.983G>C
ENST00000674147.1:c.1345G>C	ENSP00000500964.1:p.Val449Leu
ENST00000242839.8:c.1789G>C	ENSP00000242839.4:p.Val597Leu
ENST00000344297.8:c.1789G>C	ENSP00000342559.5:p.Val597Leu
ENST00000400366.5:c.1456G>C	ENSP00000383217.3:p.Val486Leu
ENST00000400370.8:c.1285+8983G>C	ENSP00000383221.3:n.1285+8983G>C
ENST00000418097.7:c.1789G>C	ENSP00000393343.2:p.Val597Leu
ENST00000448424.6:c.1789G>C	ENSP00000416738.2:p.Val597Leu
ENST00000482841.6:n.1664+5540G>C
ENST00000483772.1:n.545G>C
ENST00000634308.1:c.1789G>C	ENSP00000489234.1:p.Val597Leu
ENST00000634620.1:n.281G>C
ENST00000634844.1:c.1789G>C	ENSP00000489398.1:p.Val597Leu
ENST00000635406.1:n.212-18474G>C
NM_000053.3:c.1789G>C	NP_000044.2:p.Val597Leu
NM_001005918.2:c.1789G>C	NP_001005918.1:p.Val597Leu
NM_001243182.1:c.1456G>C	NP_001230111.1:p.Val486Leu
XM_005266423.2:c.1693G>C	XP_005266480.1:p.Val565Leu
XM_005266424.3:c.1693G>C	XP_005266481.1:p.Val565Leu
XM_005266427.2:c.1789G>C	XP_005266484.1:p.Val597Leu
XM_005266428.1:c.1789G>C	XP_005266485.1:p.Val597Leu
XM_005266430.3:c.1789G>C	XP_005266487.1:p.Val597Leu
XM_005266431.2:c.1753G>C	XP_005266488.1:p.Val585Leu
XM_005266432.2:c.1789G>C	XP_005266489.1:p.Val597Leu
XM_006719837.2:c.1693G>C	XP_006719900.1:p.Val565Leu
XM_011535117.1:c.1693G>C	XP_011533419.1:p.Val565Leu
XM_011535118.1:c.1789G>C	XP_011533420.1:p.Val597Leu
XM_011535119.1:c.1789G>C	XP_011533421.1:p.Val597Leu
XM_011535120.1:c.1707+3492G>C	XP_011533422.1:n.1707+3492G>C
XM_011535121.1:c.1789G>C	XP_011533423.1:p.Val597Leu
XM_011535122.1:c.457G>C	XP_011533424.1:p.Val153Leu
XR_941601.1:n.2008G>C
XR_941602.1:n.2008G>C
XR_941603.1:n.2008G>C
XR_941604.1:n.2008G>C
NM_001330578.1:c.1789G>C	NP_001317507.1:p.Val597Leu
NM_001330579.1:c.1789G>C	NP_001317508.1:p.Val597Leu
XM_005266424.4:c.1693G>C	XP_005266481.1:p.Val565Leu
XM_005266430.4:c.1789G>C	XP_005266487.1:p.Val597Leu
XM_005266431.4:c.1753G>C	XP_005266488.1:p.Val585Leu
XM_006719837.3:c.1693G>C	XP_006719900.1:p.Val565Leu
XM_011535117.3:c.1693G>C	XP_011533419.1:p.Val565Leu
XM_017020627.1:c.1693G>C	XP_016876116.1:p.Val565Leu
NM_000053.4:c.1789G>C MANE Select	NP_000044.2:p.Val597Leu
NM_001005918.3:c.1789G>C	NP_001005918.1:p.Val597Leu
NM_001330579.2:c.1789G>C	NP_001317508.1:p.Val597Leu
NM_001243182.2:c.1456G>C	NP_001230111.1:p.Val486Leu
NM_001330578.2:c.1789G>C	NP_001317507.1:p.Val597Leu