Canonical Allele Identifier: CA388029989

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1694086
• ClinVar RCV Id: RCV002261955 ; RCV003989760
• dbSNP Id: rs2138948476
• MyVariant Identifiers: chr13:g.52518301C>T (hg19) ; chr13:g.51944165C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944165C>T , CM000675.2:g.51944165C>T	GRCh38
NC_000013.10:g.52518301C>T , CM000675.1:g.52518301C>T	GRCh37
NC_000013.9:g.51416302C>T	NCBI36
NG_008806.1:g.72330G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1611G>A	ENSP00000489512.2:n.*894-1611G>A
ENST00000673864.2:c.*1931G>A	ENSP00000501045.2:n.*1931G>A
ENST00000674147.2:c.2566G>A	ENSP00000500964.2:p.Ala856Thr
ENST00000242839.10:c.3187G>A MANE Select	ENSP00000242839.5:p.Ala1063Thr
ENST00000344297.9:c.2566G>A	ENSP00000342559.5:p.Ala856Thr
ENST00000400366.6:c.2854G>A	ENSP00000383217.3:p.Ala952Thr
ENST00000448424.7:c.2935G>A	ENSP00000416738.3:p.Ala979Thr
ENST00000673772.1:c.2953G>A	ENSP00000501168.1:p.Ala985Thr
ENST00000673867.1:n.3326G>A
ENST00000674126.1:n.3550G>A
ENST00000674147.1:c.2122G>A	ENSP00000500964.1:p.Ala708Thr
ENST00000242839.8:c.3187G>A	ENSP00000242839.4:p.Ala1063Thr
ENST00000344297.8:c.2566G>A	ENSP00000342559.5:p.Ala856Thr
ENST00000400366.5:c.2854G>A	ENSP00000383217.3:p.Ala952Thr
ENST00000400370.8:c.1897G>A	ENSP00000383221.3:p.Ala633Thr
ENST00000418097.7:c.2992G>A	ENSP00000393343.2:p.Ala998Thr
ENST00000448424.6:c.2953G>A	ENSP00000416738.2:p.Ala985Thr
ENST00000466629.1:n.407G>A
ENST00000634296.1:c.1022-1611G>A
ENST00000634308.1:c.*288G>A	ENSP00000489234.1:n.*288G>A
ENST00000634620.1:n.3931G>A
ENST00000634810.1:n.2532G>A
ENST00000634844.1:c.3043G>A	ENSP00000489398.1:p.Ala1015Thr
NM_000053.3:c.3187G>A	NP_000044.2:p.Ala1063Thr
NM_001005918.2:c.2566G>A	NP_001005918.1:p.Ala856Thr
NM_001243182.1:c.2854G>A	NP_001230111.1:p.Ala952Thr
XM_005266423.2:c.3091G>A	XP_005266480.1:p.Ala1031Thr
XM_005266424.3:c.3091G>A	XP_005266481.1:p.Ala1031Thr
XM_005266427.2:c.2953G>A	XP_005266484.1:p.Ala985Thr
XM_005266428.1:c.2935G>A	XP_005266485.1:p.Ala979Thr
XM_005266430.3:c.3187G>A	XP_005266487.1:p.Ala1063Thr
XM_005266431.2:c.3151G>A	XP_005266488.1:p.Ala1051Thr
XM_005266432.2:c.2701G>A	XP_005266489.1:p.Ala901Thr
XM_006719837.2:c.3091G>A	XP_006719900.1:p.Ala1031Thr
XM_006719838.1:c.1003G>A	XP_006719901.1:p.Ala335Thr
XM_006719839.1:c.877-1611G>A	XP_006719902.1:n.877-1611G>A
XM_011535117.1:c.3091G>A	XP_011533419.1:p.Ala1031Thr
XM_011535118.1:c.3052G>A	XP_011533420.1:p.Ala1018Thr
XM_011535119.1:c.3061-1611G>A	XP_011533421.1:n.3061-1611G>A
XM_011535120.1:c.2773G>A	XP_011533422.1:p.Ala925Thr
XM_011535121.1:c.2731-1611G>A	XP_011533423.1:n.2731-1611G>A
XM_011535122.1:c.1855G>A	XP_011533424.1:p.Ala619Thr
XR_941601.1:n.3406G>A
XR_941602.1:n.3406G>A
XR_941603.1:n.3406G>A
XR_941604.1:n.3406G>A
NM_001330578.1:c.2953G>A	NP_001317507.1:p.Ala985Thr
NM_001330579.1:c.2935G>A	NP_001317508.1:p.Ala979Thr
XM_005266424.4:c.3091G>A	XP_005266481.1:p.Ala1031Thr
XM_005266430.4:c.3187G>A	XP_005266487.1:p.Ala1063Thr
XM_005266431.4:c.3151G>A	XP_005266488.1:p.Ala1051Thr
XM_006719837.3:c.3091G>A	XP_006719900.1:p.Ala1031Thr
XM_011535117.3:c.3091G>A	XP_011533419.1:p.Ala1031Thr
XM_017020627.1:c.3091G>A	XP_016876116.1:p.Ala1031Thr
NM_000053.4:c.3187G>A MANE Select	NP_000044.2:p.Ala1063Thr
NM_001005918.3:c.2566G>A	NP_001005918.1:p.Ala856Thr
NM_001330579.2:c.2935G>A	NP_001317508.1:p.Ala979Thr
NM_001243182.2:c.2854G>A	NP_001230111.1:p.Ala952Thr
NM_001330578.2:c.2953G>A	NP_001317507.1:p.Ala985Thr