Canonical Allele Identifier: CA388030581

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518402G>T (hg19) ; chr13:g.51944266G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944266G>T , CM000675.2:g.51944266G>T	GRCh38
NC_000013.10:g.52518402G>T , CM000675.1:g.52518402G>T	GRCh37
NC_000013.9:g.51416403G>T	NCBI36
NG_008806.1:g.72229C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1712C>A	ENSP00000489512.2:n.*894-1712C>A
ENST00000673864.2:c.*1830C>A	ENSP00000501045.2:n.*1830C>A
ENST00000674147.2:c.2465C>A	ENSP00000500964.2:p.Thr822Asn
ENST00000242839.10:c.3086C>A MANE Select	ENSP00000242839.5:p.Thr1029Asn
ENST00000344297.9:c.2465C>A	ENSP00000342559.5:p.Thr822Asn
ENST00000400366.6:c.2753C>A	ENSP00000383217.3:p.Thr918Asn
ENST00000448424.7:c.2834C>A	ENSP00000416738.3:p.Thr945Asn
ENST00000673772.1:c.2852C>A	ENSP00000501168.1:p.Thr951Asn
ENST00000673867.1:n.3225C>A
ENST00000674126.1:n.3449C>A
ENST00000674147.1:c.2021C>A	ENSP00000500964.1:p.Thr674Asn
ENST00000242839.8:c.3086C>A	ENSP00000242839.4:p.Thr1029Asn
ENST00000344297.8:c.2465C>A	ENSP00000342559.5:p.Thr822Asn
ENST00000400366.5:c.2753C>A	ENSP00000383217.3:p.Thr918Asn
ENST00000400370.8:c.1796C>A	ENSP00000383221.3:p.Thr599Asn
ENST00000418097.7:c.2891C>A	ENSP00000393343.2:p.Thr964Asn
ENST00000448424.6:c.2852C>A	ENSP00000416738.2:p.Thr951Asn
ENST00000466629.1:n.306C>A
ENST00000634296.1:c.1022-1712C>A
ENST00000634308.1:c.*187C>A	ENSP00000489234.1:n.*187C>A
ENST00000634620.1:n.3830C>A
ENST00000634810.1:n.2431C>A
ENST00000634844.1:c.2942C>A	ENSP00000489398.1:p.Thr981Asn
ENST00000635406.1:n.432C>A
NM_000053.3:c.3086C>A	NP_000044.2:p.Thr1029Asn
NM_001005918.2:c.2465C>A	NP_001005918.1:p.Thr822Asn
NM_001243182.1:c.2753C>A	NP_001230111.1:p.Thr918Asn
XM_005266423.2:c.2990C>A	XP_005266480.1:p.Thr997Asn
XM_005266424.3:c.2990C>A	XP_005266481.1:p.Thr997Asn
XM_005266427.2:c.2852C>A	XP_005266484.1:p.Thr951Asn
XM_005266428.1:c.2834C>A	XP_005266485.1:p.Thr945Asn
XM_005266430.3:c.3086C>A	XP_005266487.1:p.Thr1029Asn
XM_005266431.2:c.3050C>A	XP_005266488.1:p.Thr1017Asn
XM_005266432.2:c.2600C>A	XP_005266489.1:p.Thr867Asn
XM_006719837.2:c.2990C>A	XP_006719900.1:p.Thr997Asn
XM_006719838.1:c.902C>A	XP_006719901.1:p.Thr301Asn
XM_006719839.1:c.877-1712C>A	XP_006719902.1:n.877-1712C>A
XM_011535117.1:c.2990C>A	XP_011533419.1:p.Thr997Asn
XM_011535118.1:c.2951C>A	XP_011533420.1:p.Thr984Asn
XM_011535119.1:c.3061-1712C>A	XP_011533421.1:n.3061-1712C>A
XM_011535120.1:c.2672C>A	XP_011533422.1:p.Thr891Asn
XM_011535121.1:c.2731-1712C>A	XP_011533423.1:n.2731-1712C>A
XM_011535122.1:c.1754C>A	XP_011533424.1:p.Thr585Asn
XR_941601.1:n.3305C>A
XR_941602.1:n.3305C>A
XR_941603.1:n.3305C>A
XR_941604.1:n.3305C>A
NM_001330578.1:c.2852C>A	NP_001317507.1:p.Thr951Asn
NM_001330579.1:c.2834C>A	NP_001317508.1:p.Thr945Asn
XM_005266424.4:c.2990C>A	XP_005266481.1:p.Thr997Asn
XM_005266430.4:c.3086C>A	XP_005266487.1:p.Thr1029Asn
XM_005266431.4:c.3050C>A	XP_005266488.1:p.Thr1017Asn
XM_006719837.3:c.2990C>A	XP_006719900.1:p.Thr997Asn
XM_011535117.3:c.2990C>A	XP_011533419.1:p.Thr997Asn
XM_017020627.1:c.2990C>A	XP_016876116.1:p.Thr997Asn
NM_000053.4:c.3086C>A MANE Select	NP_000044.2:p.Thr1029Asn
NM_001005918.3:c.2465C>A	NP_001005918.1:p.Thr822Asn
NM_001330579.2:c.2834C>A	NP_001317508.1:p.Thr945Asn
NM_001243182.2:c.2753C>A	NP_001230111.1:p.Thr918Asn
NM_001330578.2:c.2852C>A	NP_001317507.1:p.Thr951Asn