Canonical Allele Identifier: CA388029959

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518295C>T (hg19) ; chr13:g.51944159C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944159C>T , CM000675.2:g.51944159C>T	GRCh38
NC_000013.10:g.52518295C>T , CM000675.1:g.52518295C>T	GRCh37
NC_000013.9:g.51416296C>T	NCBI36
NG_008806.1:g.72336G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1605G>A	ENSP00000489512.2:n.*894-1605G>A
ENST00000673864.2:c.*1937G>A	ENSP00000501045.2:n.*1937G>A
ENST00000674147.2:c.2572G>A	ENSP00000500964.2:p.Ala858Thr
ENST00000242839.10:c.3193G>A MANE Select	ENSP00000242839.5:p.Ala1065Thr
ENST00000344297.9:c.2572G>A	ENSP00000342559.5:p.Ala858Thr
ENST00000400366.6:c.2860G>A	ENSP00000383217.3:p.Ala954Thr
ENST00000448424.7:c.2941G>A	ENSP00000416738.3:p.Ala981Thr
ENST00000673772.1:c.2959G>A	ENSP00000501168.1:p.Ala987Thr
ENST00000673867.1:n.3332G>A
ENST00000674126.1:n.3556G>A
ENST00000674147.1:c.2128G>A	ENSP00000500964.1:p.Ala710Thr
ENST00000242839.8:c.3193G>A	ENSP00000242839.4:p.Ala1065Thr
ENST00000344297.8:c.2572G>A	ENSP00000342559.5:p.Ala858Thr
ENST00000400366.5:c.2860G>A	ENSP00000383217.3:p.Ala954Thr
ENST00000400370.8:c.1903G>A	ENSP00000383221.3:p.Ala635Thr
ENST00000418097.7:c.2998G>A	ENSP00000393343.2:p.Ala1000Thr
ENST00000448424.6:c.2959G>A	ENSP00000416738.2:p.Ala987Thr
ENST00000466629.1:n.413G>A
ENST00000634296.1:c.1022-1605G>A
ENST00000634308.1:c.*294G>A	ENSP00000489234.1:n.*294G>A
ENST00000634620.1:n.3937G>A
ENST00000634810.1:n.2538G>A
ENST00000634844.1:c.3049G>A	ENSP00000489398.1:p.Ala1017Thr
NM_000053.3:c.3193G>A	NP_000044.2:p.Ala1065Thr
NM_001005918.2:c.2572G>A	NP_001005918.1:p.Ala858Thr
NM_001243182.1:c.2860G>A	NP_001230111.1:p.Ala954Thr
XM_005266423.2:c.3097G>A	XP_005266480.1:p.Ala1033Thr
XM_005266424.3:c.3097G>A	XP_005266481.1:p.Ala1033Thr
XM_005266427.2:c.2959G>A	XP_005266484.1:p.Ala987Thr
XM_005266428.1:c.2941G>A	XP_005266485.1:p.Ala981Thr
XM_005266430.3:c.3193G>A	XP_005266487.1:p.Ala1065Thr
XM_005266431.2:c.3157G>A	XP_005266488.1:p.Ala1053Thr
XM_005266432.2:c.2707G>A	XP_005266489.1:p.Ala903Thr
XM_006719837.2:c.3097G>A	XP_006719900.1:p.Ala1033Thr
XM_006719838.1:c.1009G>A	XP_006719901.1:p.Ala337Thr
XM_006719839.1:c.877-1605G>A	XP_006719902.1:n.877-1605G>A
XM_011535117.1:c.3097G>A	XP_011533419.1:p.Ala1033Thr
XM_011535118.1:c.3058G>A	XP_011533420.1:p.Ala1020Thr
XM_011535119.1:c.3061-1605G>A	XP_011533421.1:n.3061-1605G>A
XM_011535120.1:c.2779G>A	XP_011533422.1:p.Ala927Thr
XM_011535121.1:c.2731-1605G>A	XP_011533423.1:n.2731-1605G>A
XM_011535122.1:c.1861G>A	XP_011533424.1:p.Ala621Thr
XR_941601.1:n.3412G>A
XR_941602.1:n.3412G>A
XR_941603.1:n.3412G>A
XR_941604.1:n.3412G>A
NM_001330578.1:c.2959G>A	NP_001317507.1:p.Ala987Thr
NM_001330579.1:c.2941G>A	NP_001317508.1:p.Ala981Thr
XM_005266424.4:c.3097G>A	XP_005266481.1:p.Ala1033Thr
XM_005266430.4:c.3193G>A	XP_005266487.1:p.Ala1065Thr
XM_005266431.4:c.3157G>A	XP_005266488.1:p.Ala1053Thr
XM_006719837.3:c.3097G>A	XP_006719900.1:p.Ala1033Thr
XM_011535117.3:c.3097G>A	XP_011533419.1:p.Ala1033Thr
XM_017020627.1:c.3097G>A	XP_016876116.1:p.Ala1033Thr
NM_000053.4:c.3193G>A MANE Select	NP_000044.2:p.Ala1065Thr
NM_001005918.3:c.2572G>A	NP_001005918.1:p.Ala858Thr
NM_001330579.2:c.2941G>A	NP_001317508.1:p.Ala981Thr
NM_001243182.2:c.2860G>A	NP_001230111.1:p.Ala954Thr
NM_001330578.2:c.2959G>A	NP_001317507.1:p.Ala987Thr