Canonical Allele Identifier: CA388025245

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 556945
• ClinVar RCV Id: RCV000673015
• dbSNP Id: rs1555291848
• MyVariant Identifiers: chr13:g.52534367G>A (hg19) ; chr13:g.51960231G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51960231G>A , CM000675.2:g.51960231G>A	GRCh38
NC_000013.10:g.52534367G>A , CM000675.1:g.52534367G>A	GRCh37
NC_000013.9:g.51432368G>A	NCBI36
NG_008806.1:g.56264C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.1946+1606C>T	ENSP00000489512.2:n.1946+1606C>T
ENST00000673864.2:c.*782C>T	ENSP00000501045.2:n.*782C>T
ENST00000674147.2:c.1870-2624C>T	ENSP00000500964.2:n.1870-2624C>T
ENST00000242839.10:c.2038C>T MANE Select	ENSP00000242839.5:p.Gln680Ter
ENST00000344297.9:c.1870-2624C>T	ENSP00000342559.5:n.1870-2624C>T
ENST00000400366.6:c.1705C>T	ENSP00000383217.3:p.Gln569Ter
ENST00000448424.7:c.1870-1687C>T	ENSP00000416738.3:n.1870-1687C>T
ENST00000673772.1:c.2038C>T	ENSP00000501168.1:p.Gln680Ter
ENST00000674147.1:c.1426-2624C>T	ENSP00000500964.1:n.1426-2624C>T
ENST00000242839.8:c.2038C>T	ENSP00000242839.4:p.Gln680Ter
ENST00000344297.8:c.1870-2624C>T	ENSP00000342559.5:n.1870-2624C>T
ENST00000400366.5:c.1705C>T	ENSP00000383217.3:p.Gln569Ter
ENST00000400370.8:c.1286-10070C>T	ENSP00000383221.3:n.1286-10070C>T
ENST00000418097.7:c.2038C>T	ENSP00000393343.2:p.Gln680Ter
ENST00000448424.6:c.2038C>T	ENSP00000416738.2:p.Gln680Ter
ENST00000482841.6:n.1665-1687C>T
ENST00000634296.1:c.82+1606C>T
ENST00000634308.1:c.2038C>T	ENSP00000489234.1:p.Gln680Ter
ENST00000634620.1:n.530C>T
ENST00000634844.1:c.2038C>T	ENSP00000489398.1:p.Gln680Ter
ENST00000635406.1:n.212-13753C>T
NM_000053.3:c.2038C>T	NP_000044.2:p.Gln680Ter
NM_001005918.2:c.1870-2624C>T	NP_001005918.1:n.1870-2624C>T
NM_001243182.1:c.1705C>T	NP_001230111.1:p.Gln569Ter
XM_005266423.2:c.1942C>T	XP_005266480.1:p.Gln648Ter
XM_005266424.3:c.1942C>T	XP_005266481.1:p.Gln648Ter
XM_005266427.2:c.2038C>T	XP_005266484.1:p.Gln680Ter
XM_005266428.1:c.1870-1687C>T	XP_005266485.1:n.1870-1687C>T
XM_005266430.3:c.2038C>T	XP_005266487.1:p.Gln680Ter
XM_005266431.2:c.2002C>T	XP_005266488.1:p.Gln668Ter
XM_005266432.2:c.1870-2624C>T	XP_005266489.1:n.1870-2624C>T
XM_006719837.2:c.1942C>T	XP_006719900.1:p.Gln648Ter
XM_006719838.1:c.-64+1606C>T	XP_006719901.1:n.-64+1606C>T
XM_006719839.1:c.-64+1606C>T	XP_006719902.1:n.-64+1606C>T
XM_011535117.1:c.1942C>T	XP_011533419.1:p.Gln648Ter
XM_011535118.1:c.2038C>T	XP_011533420.1:p.Gln680Ter
XM_011535119.1:c.2038C>T	XP_011533421.1:p.Gln680Ter
XM_011535120.1:c.1708-1687C>T	XP_011533422.1:n.1708-1687C>T
XM_011535121.1:c.2038C>T	XP_011533423.1:p.Gln680Ter
XM_011535122.1:c.706C>T	XP_011533424.1:p.Gln236Ter
XR_941601.1:n.2257C>T
XR_941602.1:n.2257C>T
XR_941603.1:n.2257C>T
XR_941604.1:n.2257C>T
NM_001330578.1:c.2038C>T	NP_001317507.1:p.Gln680Ter
NM_001330579.1:c.1870-1687C>T	NP_001317508.1:n.1870-1687C>T
XM_005266424.4:c.1942C>T	XP_005266481.1:p.Gln648Ter
XM_005266430.4:c.2038C>T	XP_005266487.1:p.Gln680Ter
XM_005266431.4:c.2002C>T	XP_005266488.1:p.Gln668Ter
XM_006719837.3:c.1942C>T	XP_006719900.1:p.Gln648Ter
XM_011535117.3:c.1942C>T	XP_011533419.1:p.Gln648Ter
XM_017020627.1:c.1942C>T	XP_016876116.1:p.Gln648Ter
NM_000053.4:c.2038C>T MANE Select	NP_000044.2:p.Gln680Ter
NM_001005918.3:c.1870-2624C>T	NP_001005918.1:n.1870-2624C>T
NM_001330579.2:c.1870-1687C>T	NP_001317508.1:n.1870-1687C>T
NM_001243182.2:c.1705C>T	NP_001230111.1:p.Gln569Ter
NM_001330578.2:c.2038C>T	NP_001317507.1:p.Gln680Ter