Canonical Allele Identifier: CA484024091

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1086441
• ClinVar RCV Id: RCV001404205
• dbSNP Id: rs1566428703
• gnomAD v2: 13-52508964-G-A
• gnomAD v3: 13-51934828-G-A
• gnomAD v4: 13-51934828-G-A
• MyVariant Identifiers: chr13:g.52508964G>A (hg19) ; chr13:g.52508964_52508965delinsAC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51934828G>A , CM000675.2:g.51934828G>A	GRCh38
NC_000013.10:g.52508964G>A , CM000675.1:g.52508964G>A	GRCh37
NC_000013.9:g.51406965G>A	NCBI36
NG_008806.1:g.81667C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1976C>T	ENSP00000489512.2:n.*1976C>T
ENST00000673864.2:c.*3070C>T	ENSP00000501045.2:n.*3070C>T
ENST00000674147.2:c.3705C>T	ENSP00000500964.2:p.Ser1235=
ENST00000242839.10:c.4326C>T MANE Select	ENSP00000242839.5:p.Ser1442=
ENST00000344297.9:c.3705C>T	ENSP00000342559.5:p.Ser1235=
ENST00000400366.6:c.3993C>T	ENSP00000383217.3:p.Ser1331=
ENST00000448424.7:c.4074C>T	ENSP00000416738.3:p.Ser1358=
ENST00000673696.1:n.1649C>T
ENST00000673772.1:c.4092C>T	ENSP00000501168.1:p.Ser1364=
ENST00000673867.1:n.4465C>T
ENST00000673923.1:n.1192C>T
ENST00000674147.1:c.3261C>T	ENSP00000500964.1:p.Ser1087=
ENST00000242839.8:c.4326C>T	ENSP00000242839.4:p.Ser1442=
ENST00000344297.8:c.3705C>T	ENSP00000342559.5:p.Ser1235=
ENST00000400366.5:c.3993C>T	ENSP00000383217.3:p.Ser1331=
ENST00000400370.8:c.3036C>T	ENSP00000383221.3:p.Ser1012=
ENST00000418097.7:c.4131C>T	ENSP00000393343.2:p.Ser1377=
ENST00000448424.6:c.4092C>T	ENSP00000416738.2:p.Ser1364=
ENST00000634296.1:c.2104C>T
ENST00000634308.1:c.*1427C>T	ENSP00000489234.1:n.*1427C>T
ENST00000634620.1:n.5070C>T
ENST00000634810.1:n.3671C>T
ENST00000634844.1:c.4182C>T	ENSP00000489398.1:p.Ser1394=
NM_000053.3:c.4326C>T	NP_000044.2:p.Ser1442=
NM_001005918.2:c.3705C>T	NP_001005918.1:p.Ser1235=
NM_001243182.1:c.3993C>T	NP_001230111.1:p.Ser1331=
XM_005266423.2:c.4230C>T	XP_005266480.1:p.Ser1410=
XM_005266424.3:c.4230C>T	XP_005266481.1:p.Ser1410=
XM_005266427.2:c.4092C>T	XP_005266484.1:p.Ser1364=
XM_005266428.1:c.4074C>T	XP_005266485.1:p.Ser1358=
XM_005266430.3:c.4326C>T	XP_005266487.1:p.Ser1442=
XM_005266431.2:c.4290C>T	XP_005266488.1:p.Ser1430=
XM_005266432.2:c.3840C>T	XP_005266489.1:p.Ser1280=
XM_006719837.2:c.4230C>T	XP_006719900.1:p.Ser1410=
XM_006719838.1:c.2142C>T	XP_006719901.1:p.Ser714=
XM_006719839.1:c.1959C>T	XP_006719902.1:p.Ser653=
XM_011535117.1:c.4230C>T	XP_011533419.1:p.Ser1410=
XM_011535118.1:c.4191C>T	XP_011533420.1:p.Ser1397=
XM_011535119.1:c.4143C>T	XP_011533421.1:p.Ser1381=
XM_011535120.1:c.3912C>T	XP_011533422.1:p.Ser1304=
XM_011535121.1:c.3813C>T	XP_011533423.1:p.Ser1271=
XM_011535122.1:c.2994C>T	XP_011533424.1:p.Ser998=
XR_941601.1:n.4545C>T
XR_941602.1:n.4545C>T
XR_941603.1:n.4545C>T
XR_941604.1:n.4545C>T
NM_001330578.1:c.4092C>T	NP_001317507.1:p.Ser1364=
NM_001330579.1:c.4074C>T	NP_001317508.1:p.Ser1358=
XM_005266424.4:c.4230C>T	XP_005266481.1:p.Ser1410=
XM_005266430.4:c.4326C>T	XP_005266487.1:p.Ser1442=
XM_005266431.4:c.4290C>T	XP_005266488.1:p.Ser1430=
XM_006719837.3:c.4230C>T	XP_006719900.1:p.Ser1410=
XM_011535117.3:c.4230C>T	XP_011533419.1:p.Ser1410=
XM_017020627.1:c.4230C>T	XP_016876116.1:p.Ser1410=
NM_000053.4:c.4326C>T MANE Select	NP_000044.2:p.Ser1442=
NM_001005918.3:c.3705C>T	NP_001005918.1:p.Ser1235=
NM_001330579.2:c.4074C>T	NP_001317508.1:p.Ser1358=
NM_001243182.2:c.3993C>T	NP_001230111.1:p.Ser1331=
NM_001330578.2:c.4092C>T	NP_001317507.1:p.Ser1364=