Canonical Allele Identifier: CA6989101

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 994376
• ClinVar RCV Id: RCV001287686
• dbSNP Id: rs780843377
• ExAC: 13:52532675 G / A
• gnomAD v2: 13-52532675-G-A
• gnomAD v3: 13-51958539-G-A
• gnomAD v4: 13-51958539-G-A
• MyVariant Identifiers: chr13:g.52532675G>A (hg19) ; chr13:g.51958539G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51958539G>A , CM000675.2:g.51958539G>A	GRCh38
NC_000013.10:g.52532675G>A , CM000675.1:g.52532675G>A	GRCh37
NC_000013.9:g.51430676G>A	NCBI36
NG_008806.1:g.57956C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.1952C>T	ENSP00000489512.2:p.Ser651Leu
ENST00000673864.2:c.*871C>T	ENSP00000501045.2:n.*871C>T
ENST00000674147.2:c.1870-932C>T	ENSP00000500964.2:n.1870-932C>T
ENST00000242839.10:c.2127C>T MANE Select	ENSP00000242839.5:p.Leu709=
ENST00000344297.9:c.1870-932C>T	ENSP00000342559.5:n.1870-932C>T
ENST00000400366.6:c.1794C>T	ENSP00000383217.3:p.Leu598=
ENST00000448424.7:c.1875C>T	ENSP00000416738.3:p.Leu625=
ENST00000673772.1:c.2122-932C>T	ENSP00000501168.1:n.2122-932C>T
ENST00000674147.1:c.1426-932C>T	ENSP00000500964.1:n.1426-932C>T
ENST00000242839.8:c.2127C>T	ENSP00000242839.4:p.Leu709=
ENST00000344297.8:c.1870-932C>T	ENSP00000342559.5:n.1870-932C>T
ENST00000400366.5:c.1794C>T	ENSP00000383217.3:p.Leu598=
ENST00000400370.8:c.1286-8378C>T	ENSP00000383221.3:n.1286-8378C>T
ENST00000418097.7:c.2127C>T	ENSP00000393343.2:p.Leu709=
ENST00000448424.6:c.2122-932C>T	ENSP00000416738.2:n.2122-932C>T
ENST00000482841.6:n.1670C>T
ENST00000634296.1:c.88C>T
ENST00000634308.1:c.2122-932C>T	ENSP00000489234.1:n.2122-932C>T
ENST00000634620.1:n.2222C>T
ENST00000634810.1:n.1472C>T
ENST00000634844.1:c.2122-139C>T	ENSP00000489398.1:n.2122-139C>T
ENST00000635406.1:n.212-12061C>T
NM_000053.3:c.2127C>T	NP_000044.2:p.Leu709=
NM_001005918.2:c.1870-932C>T	NP_001005918.1:n.1870-932C>T
NM_001243182.1:c.1794C>T	NP_001230111.1:p.Leu598=
XM_005266423.2:c.2031C>T	XP_005266480.1:p.Leu677=
XM_005266424.3:c.2031C>T	XP_005266481.1:p.Leu677=
XM_005266427.2:c.2122-932C>T	XP_005266484.1:n.2122-932C>T
XM_005266428.1:c.1875C>T	XP_005266485.1:p.Leu625=
XM_005266430.3:c.2127C>T	XP_005266487.1:p.Leu709=
XM_005266431.2:c.2091C>T	XP_005266488.1:p.Leu697=
XM_005266432.2:c.1870-932C>T	XP_005266489.1:n.1870-932C>T
XM_006719837.2:c.2031C>T	XP_006719900.1:p.Leu677=
XM_006719838.1:c.-58C>T	XP_006719901.1:n.-58C>T
XM_006719839.1:c.-58C>T	XP_006719902.1:n.-58C>T
XM_011535117.1:c.2031C>T	XP_011533419.1:p.Leu677=
XM_011535118.1:c.2127C>T	XP_011533420.1:p.Leu709=
XM_011535119.1:c.2127C>T	XP_011533421.1:p.Leu709=
XM_011535120.1:c.1713C>T	XP_011533422.1:p.Leu571=
XM_011535121.1:c.2127C>T	XP_011533423.1:p.Leu709=
XM_011535122.1:c.795C>T	XP_011533424.1:p.Leu265=
XR_941601.1:n.2346C>T
XR_941602.1:n.2346C>T
XR_941603.1:n.2346C>T
XR_941604.1:n.2346C>T
NM_001330578.1:c.2122-932C>T	NP_001317507.1:n.2122-932C>T
NM_001330579.1:c.1875C>T	NP_001317508.1:p.Leu625=
XM_005266424.4:c.2031C>T	XP_005266481.1:p.Leu677=
XM_005266430.4:c.2127C>T	XP_005266487.1:p.Leu709=
XM_005266431.4:c.2091C>T	XP_005266488.1:p.Leu697=
XM_006719837.3:c.2031C>T	XP_006719900.1:p.Leu677=
XM_011535117.3:c.2031C>T	XP_011533419.1:p.Leu677=
XM_017020627.1:c.2031C>T	XP_016876116.1:p.Leu677=
NM_000053.4:c.2127C>T MANE Select	NP_000044.2:p.Leu709=
NM_001005918.3:c.1870-932C>T	NP_001005918.1:n.1870-932C>T
NM_001330579.2:c.1875C>T	NP_001317508.1:p.Leu625=
NM_001243182.2:c.1794C>T	NP_001230111.1:p.Leu598=
NM_001330578.2:c.2122-932C>T	NP_001317507.1:n.2122-932C>T