Canonical Allele Identifier: CA6989103

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2715663
• ClinVar RCV Id: RCV003503862
• dbSNP Id: rs769864947
• ExAC: 13:52532677 G / A
• gnomAD v2: 13-52532677-G-A
• gnomAD v3: 13-51958541-G-A
• gnomAD v4: 13-51958541-G-A
• MyVariant Identifiers: chr13:g.52532677G>A (hg19) ; chr13:g.51958541G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51958541G>A , CM000675.2:g.51958541G>A	GRCh38
NC_000013.10:g.52532677G>A , CM000675.1:g.52532677G>A	GRCh37
NC_000013.9:g.51430678G>A	NCBI36
NG_008806.1:g.57954C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.1950C>T	ENSP00000489512.2:p.Ser650=
ENST00000673864.2:c.*869C>T	ENSP00000501045.2:n.*869C>T
ENST00000674147.2:c.1870-934C>T	ENSP00000500964.2:n.1870-934C>T
ENST00000242839.10:c.2125C>T MANE Select	ENSP00000242839.5:p.Leu709Phe
ENST00000344297.9:c.1870-934C>T	ENSP00000342559.5:n.1870-934C>T
ENST00000400366.6:c.1792C>T	ENSP00000383217.3:p.Leu598Phe
ENST00000448424.7:c.1873C>T	ENSP00000416738.3:p.Leu625Phe
ENST00000673772.1:c.2122-934C>T	ENSP00000501168.1:n.2122-934C>T
ENST00000674147.1:c.1426-934C>T	ENSP00000500964.1:n.1426-934C>T
ENST00000242839.8:c.2125C>T	ENSP00000242839.4:p.Leu709Phe
ENST00000344297.8:c.1870-934C>T	ENSP00000342559.5:n.1870-934C>T
ENST00000400366.5:c.1792C>T	ENSP00000383217.3:p.Leu598Phe
ENST00000400370.8:c.1286-8380C>T	ENSP00000383221.3:n.1286-8380C>T
ENST00000418097.7:c.2125C>T	ENSP00000393343.2:p.Leu709Phe
ENST00000448424.6:c.2122-934C>T	ENSP00000416738.2:n.2122-934C>T
ENST00000482841.6:n.1668C>T
ENST00000634296.1:c.86C>T
ENST00000634308.1:c.2122-934C>T	ENSP00000489234.1:n.2122-934C>T
ENST00000634620.1:n.2220C>T
ENST00000634810.1:n.1470C>T
ENST00000634844.1:c.2122-141C>T	ENSP00000489398.1:n.2122-141C>T
ENST00000635406.1:n.212-12063C>T
NM_000053.3:c.2125C>T	NP_000044.2:p.Leu709Phe
NM_001005918.2:c.1870-934C>T	NP_001005918.1:n.1870-934C>T
NM_001243182.1:c.1792C>T	NP_001230111.1:p.Leu598Phe
XM_005266423.2:c.2029C>T	XP_005266480.1:p.Leu677Phe
XM_005266424.3:c.2029C>T	XP_005266481.1:p.Leu677Phe
XM_005266427.2:c.2122-934C>T	XP_005266484.1:n.2122-934C>T
XM_005266428.1:c.1873C>T	XP_005266485.1:p.Leu625Phe
XM_005266430.3:c.2125C>T	XP_005266487.1:p.Leu709Phe
XM_005266431.2:c.2089C>T	XP_005266488.1:p.Leu697Phe
XM_005266432.2:c.1870-934C>T	XP_005266489.1:n.1870-934C>T
XM_006719837.2:c.2029C>T	XP_006719900.1:p.Leu677Phe
XM_006719838.1:c.-60C>T	XP_006719901.1:n.-60C>T
XM_006719839.1:c.-60C>T	XP_006719902.1:n.-60C>T
XM_011535117.1:c.2029C>T	XP_011533419.1:p.Leu677Phe
XM_011535118.1:c.2125C>T	XP_011533420.1:p.Leu709Phe
XM_011535119.1:c.2125C>T	XP_011533421.1:p.Leu709Phe
XM_011535120.1:c.1711C>T	XP_011533422.1:p.Leu571Phe
XM_011535121.1:c.2125C>T	XP_011533423.1:p.Leu709Phe
XM_011535122.1:c.793C>T	XP_011533424.1:p.Leu265Phe
XR_941601.1:n.2344C>T
XR_941602.1:n.2344C>T
XR_941603.1:n.2344C>T
XR_941604.1:n.2344C>T
NM_001330578.1:c.2122-934C>T	NP_001317507.1:n.2122-934C>T
NM_001330579.1:c.1873C>T	NP_001317508.1:p.Leu625Phe
XM_005266424.4:c.2029C>T	XP_005266481.1:p.Leu677Phe
XM_005266430.4:c.2125C>T	XP_005266487.1:p.Leu709Phe
XM_005266431.4:c.2089C>T	XP_005266488.1:p.Leu697Phe
XM_006719837.3:c.2029C>T	XP_006719900.1:p.Leu677Phe
XM_011535117.3:c.2029C>T	XP_011533419.1:p.Leu677Phe
XM_017020627.1:c.2029C>T	XP_016876116.1:p.Leu677Phe
NM_000053.4:c.2125C>T MANE Select	NP_000044.2:p.Leu709Phe
NM_001005918.3:c.1870-934C>T	NP_001005918.1:n.1870-934C>T
NM_001330579.2:c.1873C>T	NP_001317508.1:p.Leu625Phe
NM_001243182.2:c.1792C>T	NP_001230111.1:p.Leu598Phe
NM_001330578.2:c.2122-934C>T	NP_001317507.1:n.2122-934C>T