Canonical Allele Identifier: CA6989081

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 881427
• ClinVar RCV Id: RCV001110417
• dbSNP Id: rs746531706
• ExAC: 13:52532566 C / T
• gnomAD v2: 13-52532566-C-T
• gnomAD v3: 13-51958430-C-T
• gnomAD v4: 13-51958430-C-T
• MyVariant Identifiers: chr13:g.52532566C>T (hg19) ; chr13:g.51958430C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51958430C>T , CM000675.2:g.51958430C>T	GRCh38
NC_000013.10:g.52532566C>T , CM000675.1:g.52532566C>T	GRCh37
NC_000013.9:g.51430567C>T	NCBI36
NG_008806.1:g.58065G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*69G>A	ENSP00000489512.2:n.*69G>A
ENST00000673864.2:c.*980G>A	ENSP00000501045.2:n.*980G>A
ENST00000674147.2:c.1870-823G>A	ENSP00000500964.2:n.1870-823G>A
ENST00000242839.10:c.2236G>A MANE Select	ENSP00000242839.5:p.Val746Ile
ENST00000344297.9:c.1870-823G>A	ENSP00000342559.5:n.1870-823G>A
ENST00000400366.6:c.1903G>A	ENSP00000383217.3:p.Val635Ile
ENST00000448424.7:c.1984G>A	ENSP00000416738.3:p.Val662Ile
ENST00000673772.1:c.2122-823G>A	ENSP00000501168.1:n.2122-823G>A
ENST00000674147.1:c.1426-823G>A	ENSP00000500964.1:n.1426-823G>A
ENST00000242839.8:c.2236G>A	ENSP00000242839.4:p.Val746Ile
ENST00000344297.8:c.1870-823G>A	ENSP00000342559.5:n.1870-823G>A
ENST00000400366.5:c.1903G>A	ENSP00000383217.3:p.Val635Ile
ENST00000400370.8:c.1286-8269G>A	ENSP00000383221.3:n.1286-8269G>A
ENST00000418097.7:c.2236G>A	ENSP00000393343.2:p.Val746Ile
ENST00000448424.6:c.2122-823G>A	ENSP00000416738.2:n.2122-823G>A
ENST00000482841.6:n.1779G>A
ENST00000634296.1:c.197G>A
ENST00000634308.1:c.2122-823G>A	ENSP00000489234.1:n.2122-823G>A
ENST00000634620.1:n.2331G>A
ENST00000634810.1:n.1581G>A
ENST00000634844.1:c.2122-30G>A	ENSP00000489398.1:n.2122-30G>A
ENST00000635406.1:n.212-11952G>A
NM_000053.3:c.2236G>A	NP_000044.2:p.Val746Ile
NM_001005918.2:c.1870-823G>A	NP_001005918.1:n.1870-823G>A
NM_001243182.1:c.1903G>A	NP_001230111.1:p.Val635Ile
XM_005266423.2:c.2140G>A	XP_005266480.1:p.Val714Ile
XM_005266424.3:c.2140G>A	XP_005266481.1:p.Val714Ile
XM_005266427.2:c.2122-823G>A	XP_005266484.1:n.2122-823G>A
XM_005266428.1:c.1984G>A	XP_005266485.1:p.Val662Ile
XM_005266430.3:c.2236G>A	XP_005266487.1:p.Val746Ile
XM_005266431.2:c.2200G>A	XP_005266488.1:p.Val734Ile
XM_005266432.2:c.1870-823G>A	XP_005266489.1:n.1870-823G>A
XM_006719837.2:c.2140G>A	XP_006719900.1:p.Val714Ile
XM_006719838.1:c.52G>A	XP_006719901.1:p.Val18Ile
XM_006719839.1:c.52G>A	XP_006719902.1:p.Val18Ile
XM_011535117.1:c.2140G>A	XP_011533419.1:p.Val714Ile
XM_011535118.1:c.2236G>A	XP_011533420.1:p.Val746Ile
XM_011535119.1:c.2236G>A	XP_011533421.1:p.Val746Ile
XM_011535120.1:c.1822G>A	XP_011533422.1:p.Val608Ile
XM_011535121.1:c.2236G>A	XP_011533423.1:p.Val746Ile
XM_011535122.1:c.904G>A	XP_011533424.1:p.Val302Ile
XR_941601.1:n.2455G>A
XR_941602.1:n.2455G>A
XR_941603.1:n.2455G>A
XR_941604.1:n.2455G>A
NM_001330578.1:c.2122-823G>A	NP_001317507.1:n.2122-823G>A
NM_001330579.1:c.1984G>A	NP_001317508.1:p.Val662Ile
XM_005266424.4:c.2140G>A	XP_005266481.1:p.Val714Ile
XM_005266430.4:c.2236G>A	XP_005266487.1:p.Val746Ile
XM_005266431.4:c.2200G>A	XP_005266488.1:p.Val734Ile
XM_006719837.3:c.2140G>A	XP_006719900.1:p.Val714Ile
XM_011535117.3:c.2140G>A	XP_011533419.1:p.Val714Ile
XM_017020627.1:c.2140G>A	XP_016876116.1:p.Val714Ile
NM_000053.4:c.2236G>A MANE Select	NP_000044.2:p.Val746Ile
NM_001005918.3:c.1870-823G>A	NP_001005918.1:n.1870-823G>A
NM_001330579.2:c.1984G>A	NP_001317508.1:p.Val662Ile
NM_001243182.2:c.1903G>A	NP_001230111.1:p.Val635Ile
NM_001330578.2:c.2122-823G>A	NP_001317507.1:n.2122-823G>A