Canonical Allele Identifier: CA388034459

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1516399
• ClinVar RCV Id: RCV002023924 ; RCV002509746 ; RCV002548851
• dbSNP Id: rs1455758826
• gnomAD v4: 13-51950075-T-A
• MyVariant Identifiers: chr13:g.52524211T>A (hg19) ; chr13:g.51950075T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950075T>A , CM000675.2:g.51950075T>A	GRCh38
NC_000013.10:g.52524211T>A , CM000675.1:g.52524211T>A	GRCh37
NC_000013.9:g.51422212T>A	NCBI36
NG_008806.1:g.66420A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*495A>T	ENSP00000489512.2:n.*495A>T
ENST00000673864.2:c.*1406A>T	ENSP00000501045.2:n.*1406A>T
ENST00000674147.2:c.2176A>T	ENSP00000500964.2:p.Thr726Ser
ENST00000242839.10:c.2662A>T MANE Select	ENSP00000242839.5:p.Thr888Ser
ENST00000344297.9:c.2176A>T	ENSP00000342559.5:p.Thr726Ser
ENST00000400366.6:c.2329A>T	ENSP00000383217.3:p.Thr777Ser
ENST00000448424.7:c.2410A>T	ENSP00000416738.3:p.Thr804Ser
ENST00000673772.1:c.2428A>T	ENSP00000501168.1:p.Thr810Ser
ENST00000674147.1:c.1732A>T	ENSP00000500964.1:p.Thr578Ser
ENST00000242839.8:c.2662A>T	ENSP00000242839.4:p.Thr888Ser
ENST00000344297.8:c.2176A>T	ENSP00000342559.5:p.Thr726Ser
ENST00000400366.5:c.2329A>T	ENSP00000383217.3:p.Thr777Ser
ENST00000400370.8:c.1372A>T	ENSP00000383221.3:p.Thr458Ser
ENST00000418097.7:c.2662A>T	ENSP00000393343.2:p.Thr888Ser
ENST00000448424.6:c.2428A>T	ENSP00000416738.2:p.Thr810Ser
ENST00000634296.1:c.623A>T
ENST00000634308.1:c.2428A>T	ENSP00000489234.1:p.Thr810Ser
ENST00000634620.1:n.3460A>T
ENST00000634810.1:n.2007A>T
ENST00000634844.1:c.2518A>T	ENSP00000489398.1:p.Thr840Ser
ENST00000635406.1:n.212-3597A>T
NM_000053.3:c.2662A>T	NP_000044.2:p.Thr888Ser
NM_001005918.2:c.2176A>T	NP_001005918.1:p.Thr726Ser
NM_001243182.1:c.2329A>T	NP_001230111.1:p.Thr777Ser
XM_005266423.2:c.2566A>T	XP_005266480.1:p.Thr856Ser
XM_005266424.3:c.2566A>T	XP_005266481.1:p.Thr856Ser
XM_005266427.2:c.2428A>T	XP_005266484.1:p.Thr810Ser
XM_005266428.1:c.2410A>T	XP_005266485.1:p.Thr804Ser
XM_005266430.3:c.2662A>T	XP_005266487.1:p.Thr888Ser
XM_005266431.2:c.2626A>T	XP_005266488.1:p.Thr876Ser
XM_005266432.2:c.2176A>T	XP_005266489.1:p.Thr726Ser
XM_006719837.2:c.2566A>T	XP_006719900.1:p.Thr856Ser
XM_006719838.1:c.478A>T	XP_006719901.1:p.Thr160Ser
XM_006719839.1:c.478A>T	XP_006719902.1:p.Thr160Ser
XM_011535117.1:c.2566A>T	XP_011533419.1:p.Thr856Ser
XM_011535118.1:c.2662A>T	XP_011533420.1:p.Thr888Ser
XM_011535119.1:c.2662A>T	XP_011533421.1:p.Thr888Ser
XM_011535120.1:c.2248A>T	XP_011533422.1:p.Thr750Ser
XM_011535121.1:c.2662A>T	XP_011533423.1:p.Thr888Ser
XM_011535122.1:c.1330A>T	XP_011533424.1:p.Thr444Ser
XR_941601.1:n.2881A>T
XR_941602.1:n.2881A>T
XR_941603.1:n.2881A>T
XR_941604.1:n.2881A>T
NM_001330578.1:c.2428A>T	NP_001317507.1:p.Thr810Ser
NM_001330579.1:c.2410A>T	NP_001317508.1:p.Thr804Ser
XM_005266424.4:c.2566A>T	XP_005266481.1:p.Thr856Ser
XM_005266430.4:c.2662A>T	XP_005266487.1:p.Thr888Ser
XM_005266431.4:c.2626A>T	XP_005266488.1:p.Thr876Ser
XM_006719837.3:c.2566A>T	XP_006719900.1:p.Thr856Ser
XM_011535117.3:c.2566A>T	XP_011533419.1:p.Thr856Ser
XM_017020627.1:c.2566A>T	XP_016876116.1:p.Thr856Ser
NM_000053.4:c.2662A>T MANE Select	NP_000044.2:p.Thr888Ser
NM_001005918.3:c.2176A>T	NP_001005918.1:p.Thr726Ser
NM_001330579.2:c.2410A>T	NP_001317508.1:p.Thr804Ser
NM_001243182.2:c.2329A>T	NP_001230111.1:p.Thr777Ser
NM_001330578.2:c.2428A>T	NP_001317507.1:p.Thr810Ser