Canonical Allele Identifier: CA483894712

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518341G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944205G>C , CM000675.2:g.51944205G>C	GRCh38
NC_000013.10:g.52518341G>C , CM000675.1:g.52518341G>C	GRCh37
NC_000013.9:g.51416342G>C	NCBI36
NG_008806.1:g.72290C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1651C>G	ENSP00000489512.2:n.*894-1651C>G
ENST00000673864.2:c.*1891C>G	ENSP00000501045.2:n.*1891C>G
ENST00000674147.2:c.2526C>G	ENSP00000500964.2:p.Ala842=
ENST00000242839.10:c.3147C>G MANE Select	ENSP00000242839.5:p.Ala1049=
ENST00000344297.9:c.2526C>G	ENSP00000342559.5:p.Ala842=
ENST00000400366.6:c.2814C>G	ENSP00000383217.3:p.Ala938=
ENST00000448424.7:c.2895C>G	ENSP00000416738.3:p.Ala965=
ENST00000673772.1:c.2913C>G	ENSP00000501168.1:p.Ala971=
ENST00000673867.1:n.3286C>G
ENST00000674126.1:n.3510C>G
ENST00000674147.1:c.2082C>G	ENSP00000500964.1:p.Ala694=
ENST00000242839.8:c.3147C>G	ENSP00000242839.4:p.Ala1049=
ENST00000344297.8:c.2526C>G	ENSP00000342559.5:p.Ala842=
ENST00000400366.5:c.2814C>G	ENSP00000383217.3:p.Ala938=
ENST00000400370.8:c.1857C>G	ENSP00000383221.3:p.Ala619=
ENST00000418097.7:c.2952C>G	ENSP00000393343.2:p.Ala984=
ENST00000448424.6:c.2913C>G	ENSP00000416738.2:p.Ala971=
ENST00000466629.1:n.367C>G
ENST00000634296.1:c.1022-1651C>G
ENST00000634308.1:c.*248C>G	ENSP00000489234.1:n.*248C>G
ENST00000634620.1:n.3891C>G
ENST00000634810.1:n.2492C>G
ENST00000634844.1:c.3003C>G	ENSP00000489398.1:p.Ala1001=
ENST00000635406.1:n.493C>G
NM_000053.3:c.3147C>G	NP_000044.2:p.Ala1049=
NM_001005918.2:c.2526C>G	NP_001005918.1:p.Ala842=
NM_001243182.1:c.2814C>G	NP_001230111.1:p.Ala938=
XM_005266423.2:c.3051C>G	XP_005266480.1:p.Ala1017=
XM_005266424.3:c.3051C>G	XP_005266481.1:p.Ala1017=
XM_005266427.2:c.2913C>G	XP_005266484.1:p.Ala971=
XM_005266428.1:c.2895C>G	XP_005266485.1:p.Ala965=
XM_005266430.3:c.3147C>G	XP_005266487.1:p.Ala1049=
XM_005266431.2:c.3111C>G	XP_005266488.1:p.Ala1037=
XM_005266432.2:c.2661C>G	XP_005266489.1:p.Ala887=
XM_006719837.2:c.3051C>G	XP_006719900.1:p.Ala1017=
XM_006719838.1:c.963C>G	XP_006719901.1:p.Ala321=
XM_006719839.1:c.877-1651C>G	XP_006719902.1:n.877-1651C>G
XM_011535117.1:c.3051C>G	XP_011533419.1:p.Ala1017=
XM_011535118.1:c.3012C>G	XP_011533420.1:p.Ala1004=
XM_011535119.1:c.3061-1651C>G	XP_011533421.1:n.3061-1651C>G
XM_011535120.1:c.2733C>G	XP_011533422.1:p.Ala911=
XM_011535121.1:c.2731-1651C>G	XP_011533423.1:n.2731-1651C>G
XM_011535122.1:c.1815C>G	XP_011533424.1:p.Ala605=
XR_941601.1:n.3366C>G
XR_941602.1:n.3366C>G
XR_941603.1:n.3366C>G
XR_941604.1:n.3366C>G
NM_001330578.1:c.2913C>G	NP_001317507.1:p.Ala971=
NM_001330579.1:c.2895C>G	NP_001317508.1:p.Ala965=
XM_005266424.4:c.3051C>G	XP_005266481.1:p.Ala1017=
XM_005266430.4:c.3147C>G	XP_005266487.1:p.Ala1049=
XM_005266431.4:c.3111C>G	XP_005266488.1:p.Ala1037=
XM_006719837.3:c.3051C>G	XP_006719900.1:p.Ala1017=
XM_011535117.3:c.3051C>G	XP_011533419.1:p.Ala1017=
XM_017020627.1:c.3051C>G	XP_016876116.1:p.Ala1017=
NM_000053.4:c.3147C>G MANE Select	NP_000044.2:p.Ala1049=
NM_001005918.3:c.2526C>G	NP_001005918.1:p.Ala842=
NM_001330579.2:c.2895C>G	NP_001317508.1:p.Ala965=
NM_001243182.2:c.2814C>G	NP_001230111.1:p.Ala938=
NM_001330578.2:c.2913C>G	NP_001317507.1:p.Ala971=