Canonical Allele Identifier: CA388032505

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520590T>C (hg19) ; chr13:g.51946454T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946454T>C , CM000675.2:g.51946454T>C	GRCh38
NC_000013.10:g.52520590T>C , CM000675.1:g.52520590T>C	GRCh37
NC_000013.9:g.51418591T>C	NCBI36
NG_008806.1:g.70041A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*723A>G	ENSP00000489512.2:n.*723A>G
ENST00000673864.2:c.*1634A>G	ENSP00000501045.2:n.*1634A>G
ENST00000674147.2:c.2269A>G	ENSP00000500964.2:p.Thr757Ala
ENST00000242839.10:c.2890A>G MANE Select	ENSP00000242839.5:p.Thr964Ala
ENST00000344297.9:c.2269A>G	ENSP00000342559.5:p.Thr757Ala
ENST00000400366.6:c.2557A>G	ENSP00000383217.3:p.Thr853Ala
ENST00000448424.7:c.2638A>G	ENSP00000416738.3:p.Thr880Ala
ENST00000673772.1:c.2656A>G	ENSP00000501168.1:p.Thr886Ala
ENST00000673867.1:n.1037A>G
ENST00000674126.1:n.3253A>G
ENST00000674147.1:c.1825A>G	ENSP00000500964.1:p.Thr609Ala
ENST00000242839.8:c.2890A>G	ENSP00000242839.4:p.Thr964Ala
ENST00000344297.8:c.2269A>G	ENSP00000342559.5:p.Thr757Ala
ENST00000400366.5:c.2557A>G	ENSP00000383217.3:p.Thr853Ala
ENST00000400370.8:c.1600A>G	ENSP00000383221.3:p.Thr534Ala
ENST00000418097.7:c.2866-2163A>G	ENSP00000393343.2:n.2866-2163A>G
ENST00000448424.6:c.2656A>G	ENSP00000416738.2:p.Thr886Ala
ENST00000466629.1:n.110A>G
ENST00000634296.1:c.851A>G
ENST00000634308.1:c.2676A>G	ENSP00000489234.1:p.Arg892=
ENST00000634620.1:n.3634A>G
ENST00000634810.1:n.2235A>G
ENST00000634844.1:c.2746A>G	ENSP00000489398.1:p.Thr916Ala
ENST00000635406.1:n.236A>G
NM_000053.3:c.2890A>G	NP_000044.2:p.Thr964Ala
NM_001005918.2:c.2269A>G	NP_001005918.1:p.Thr757Ala
NM_001243182.1:c.2557A>G	NP_001230111.1:p.Thr853Ala
XM_005266423.2:c.2794A>G	XP_005266480.1:p.Thr932Ala
XM_005266424.3:c.2794A>G	XP_005266481.1:p.Thr932Ala
XM_005266427.2:c.2656A>G	XP_005266484.1:p.Thr886Ala
XM_005266428.1:c.2638A>G	XP_005266485.1:p.Thr880Ala
XM_005266430.3:c.2890A>G	XP_005266487.1:p.Thr964Ala
XM_005266431.2:c.2854A>G	XP_005266488.1:p.Thr952Ala
XM_005266432.2:c.2404A>G	XP_005266489.1:p.Thr802Ala
XM_006719837.2:c.2794A>G	XP_006719900.1:p.Thr932Ala
XM_006719838.1:c.706A>G	XP_006719901.1:p.Thr236Ala
XM_006719839.1:c.706A>G	XP_006719902.1:p.Thr236Ala
XM_011535117.1:c.2794A>G	XP_011533419.1:p.Thr932Ala
XM_011535118.1:c.2755A>G	XP_011533420.1:p.Thr919Ala
XM_011535119.1:c.2890A>G	XP_011533421.1:p.Thr964Ala
XM_011535120.1:c.2476A>G	XP_011533422.1:p.Thr826Ala
XM_011535121.1:c.2730+3553A>G	XP_011533423.1:n.2730+3553A>G
XM_011535122.1:c.1558A>G	XP_011533424.1:p.Thr520Ala
XR_941601.1:n.3109A>G
XR_941602.1:n.3109A>G
XR_941603.1:n.3109A>G
XR_941604.1:n.3109A>G
NM_001330578.1:c.2656A>G	NP_001317507.1:p.Thr886Ala
NM_001330579.1:c.2638A>G	NP_001317508.1:p.Thr880Ala
XM_005266424.4:c.2794A>G	XP_005266481.1:p.Thr932Ala
XM_005266430.4:c.2890A>G	XP_005266487.1:p.Thr964Ala
XM_005266431.4:c.2854A>G	XP_005266488.1:p.Thr952Ala
XM_006719837.3:c.2794A>G	XP_006719900.1:p.Thr932Ala
XM_011535117.3:c.2794A>G	XP_011533419.1:p.Thr932Ala
XM_017020627.1:c.2794A>G	XP_016876116.1:p.Thr932Ala
NM_000053.4:c.2890A>G MANE Select	NP_000044.2:p.Thr964Ala
NM_001005918.3:c.2269A>G	NP_001005918.1:p.Thr757Ala
NM_001330579.2:c.2638A>G	NP_001317508.1:p.Thr880Ala
NM_001243182.2:c.2557A>G	NP_001230111.1:p.Thr853Ala
NM_001330578.2:c.2656A>G	NP_001317507.1:p.Thr886Ala