Canonical Allele Identifier: CA483895004

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520567A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946431A>C , CM000675.2:g.51946431A>C	GRCh38
NC_000013.10:g.52520567A>C , CM000675.1:g.52520567A>C	GRCh37
NC_000013.9:g.51418568A>C	NCBI36
NG_008806.1:g.70064T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*746T>G	ENSP00000489512.2:n.*746T>G
ENST00000673864.2:c.*1657T>G	ENSP00000501045.2:n.*1657T>G
ENST00000674147.2:c.2292T>G	ENSP00000500964.2:p.Ala764=
ENST00000242839.10:c.2913T>G MANE Select	ENSP00000242839.5:p.Ala971=
ENST00000344297.9:c.2292T>G	ENSP00000342559.5:p.Ala764=
ENST00000400366.6:c.2580T>G	ENSP00000383217.3:p.Ala860=
ENST00000448424.7:c.2661T>G	ENSP00000416738.3:p.Ala887=
ENST00000673772.1:c.2679T>G	ENSP00000501168.1:p.Ala893=
ENST00000673867.1:n.1060T>G
ENST00000674126.1:n.3276T>G
ENST00000674147.1:c.1848T>G	ENSP00000500964.1:p.Ala616=
ENST00000242839.8:c.2913T>G	ENSP00000242839.4:p.Ala971=
ENST00000344297.8:c.2292T>G	ENSP00000342559.5:p.Ala764=
ENST00000400366.5:c.2580T>G	ENSP00000383217.3:p.Ala860=
ENST00000400370.8:c.1623T>G	ENSP00000383221.3:p.Ala541=
ENST00000418097.7:c.2866-2140T>G	ENSP00000393343.2:n.2866-2140T>G
ENST00000448424.6:c.2679T>G	ENSP00000416738.2:p.Ala893=
ENST00000466629.1:n.133T>G
ENST00000634296.1:c.874T>G
ENST00000634308.1:c.*14T>G	ENSP00000489234.1:n.*14T>G
ENST00000634620.1:n.3657T>G
ENST00000634810.1:n.2258T>G
ENST00000634844.1:c.2769T>G	ENSP00000489398.1:p.Ala923=
ENST00000635406.1:n.259T>G
NM_000053.3:c.2913T>G	NP_000044.2:p.Ala971=
NM_001005918.2:c.2292T>G	NP_001005918.1:p.Ala764=
NM_001243182.1:c.2580T>G	NP_001230111.1:p.Ala860=
XM_005266423.2:c.2817T>G	XP_005266480.1:p.Ala939=
XM_005266424.3:c.2817T>G	XP_005266481.1:p.Ala939=
XM_005266427.2:c.2679T>G	XP_005266484.1:p.Ala893=
XM_005266428.1:c.2661T>G	XP_005266485.1:p.Ala887=
XM_005266430.3:c.2913T>G	XP_005266487.1:p.Ala971=
XM_005266431.2:c.2877T>G	XP_005266488.1:p.Ala959=
XM_005266432.2:c.2427T>G	XP_005266489.1:p.Ala809=
XM_006719837.2:c.2817T>G	XP_006719900.1:p.Ala939=
XM_006719838.1:c.729T>G	XP_006719901.1:p.Ala243=
XM_006719839.1:c.729T>G	XP_006719902.1:p.Ala243=
XM_011535117.1:c.2817T>G	XP_011533419.1:p.Ala939=
XM_011535118.1:c.2778T>G	XP_011533420.1:p.Ala926=
XM_011535119.1:c.2913T>G	XP_011533421.1:p.Ala971=
XM_011535120.1:c.2499T>G	XP_011533422.1:p.Ala833=
XM_011535121.1:c.2730+3576T>G	XP_011533423.1:n.2730+3576T>G
XM_011535122.1:c.1581T>G	XP_011533424.1:p.Ala527=
XR_941601.1:n.3132T>G
XR_941602.1:n.3132T>G
XR_941603.1:n.3132T>G
XR_941604.1:n.3132T>G
NM_001330578.1:c.2679T>G	NP_001317507.1:p.Ala893=
NM_001330579.1:c.2661T>G	NP_001317508.1:p.Ala887=
XM_005266424.4:c.2817T>G	XP_005266481.1:p.Ala939=
XM_005266430.4:c.2913T>G	XP_005266487.1:p.Ala971=
XM_005266431.4:c.2877T>G	XP_005266488.1:p.Ala959=
XM_006719837.3:c.2817T>G	XP_006719900.1:p.Ala939=
XM_011535117.3:c.2817T>G	XP_011533419.1:p.Ala939=
XM_017020627.1:c.2817T>G	XP_016876116.1:p.Ala939=
NM_000053.4:c.2913T>G MANE Select	NP_000044.2:p.Ala971=
NM_001005918.3:c.2292T>G	NP_001005918.1:p.Ala764=
NM_001330579.2:c.2661T>G	NP_001317508.1:p.Ala887=
NM_001243182.2:c.2580T>G	NP_001230111.1:p.Ala860=
NM_001330578.2:c.2679T>G	NP_001317507.1:p.Ala893=