Canonical Allele Identifier: CA483893934

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515236G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941100G>T , CM000675.2:g.51941100G>T	GRCh38
NC_000013.10:g.52515236G>T , CM000675.1:g.52515236G>T	GRCh37
NC_000013.9:g.51413237G>T	NCBI36
NG_008806.1:g.75395C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1187C>A	ENSP00000489512.2:n.*1187C>A
ENST00000673864.2:c.*2281C>A	ENSP00000501045.2:n.*2281C>A
ENST00000674147.2:c.2916C>A	ENSP00000500964.2:p.Ala972=
ENST00000242839.10:c.3537C>A MANE Select	ENSP00000242839.5:p.Ala1179=
ENST00000344297.9:c.2916C>A	ENSP00000342559.5:p.Ala972=
ENST00000400366.6:c.3204C>A	ENSP00000383217.3:p.Ala1068=
ENST00000448424.7:c.3285C>A	ENSP00000416738.3:p.Ala1095=
ENST00000673772.1:c.3303C>A	ENSP00000501168.1:p.Ala1101=
ENST00000673867.1:n.3676C>A
ENST00000674126.1:n.3900C>A
ENST00000674147.1:c.2472C>A	ENSP00000500964.1:p.Ala824=
ENST00000242839.8:c.3537C>A	ENSP00000242839.4:p.Ala1179=
ENST00000344297.8:c.2916C>A	ENSP00000342559.5:p.Ala972=
ENST00000400366.5:c.3204C>A	ENSP00000383217.3:p.Ala1068=
ENST00000400370.8:c.2247C>A	ENSP00000383221.3:p.Ala749=
ENST00000418097.7:c.3342C>A	ENSP00000393343.2:p.Ala1114=
ENST00000448424.6:c.3303C>A	ENSP00000416738.2:p.Ala1101=
ENST00000634296.1:c.1315C>A
ENST00000634308.1:c.*638C>A	ENSP00000489234.1:n.*638C>A
ENST00000634620.1:n.4281C>A
ENST00000634810.1:n.2882C>A
ENST00000634844.1:c.3393C>A	ENSP00000489398.1:p.Ala1131=
NM_000053.3:c.3537C>A	NP_000044.2:p.Ala1179=
NM_001005918.2:c.2916C>A	NP_001005918.1:p.Ala972=
NM_001243182.1:c.3204C>A	NP_001230111.1:p.Ala1068=
XM_005266423.2:c.3441C>A	XP_005266480.1:p.Ala1147=
XM_005266424.3:c.3441C>A	XP_005266481.1:p.Ala1147=
XM_005266427.2:c.3303C>A	XP_005266484.1:p.Ala1101=
XM_005266428.1:c.3285C>A	XP_005266485.1:p.Ala1095=
XM_005266430.3:c.3537C>A	XP_005266487.1:p.Ala1179=
XM_005266431.2:c.3501C>A	XP_005266488.1:p.Ala1167=
XM_005266432.2:c.3051C>A	XP_005266489.1:p.Ala1017=
XM_006719837.2:c.3441C>A	XP_006719900.1:p.Ala1147=
XM_006719838.1:c.1353C>A	XP_006719901.1:p.Ala451=
XM_006719839.1:c.1170C>A	XP_006719902.1:p.Ala390=
XM_011535117.1:c.3441C>A	XP_011533419.1:p.Ala1147=
XM_011535118.1:c.3402C>A	XP_011533420.1:p.Ala1134=
XM_011535119.1:c.3354C>A	XP_011533421.1:p.Ala1118=
XM_011535120.1:c.3123C>A	XP_011533422.1:p.Ala1041=
XM_011535121.1:c.3024C>A	XP_011533423.1:p.Ala1008=
XM_011535122.1:c.2205C>A	XP_011533424.1:p.Ala735=
XR_941601.1:n.3756C>A
XR_941602.1:n.3756C>A
XR_941603.1:n.3756C>A
XR_941604.1:n.3756C>A
NM_001330578.1:c.3303C>A	NP_001317507.1:p.Ala1101=
NM_001330579.1:c.3285C>A	NP_001317508.1:p.Ala1095=
XM_005266424.4:c.3441C>A	XP_005266481.1:p.Ala1147=
XM_005266430.4:c.3537C>A	XP_005266487.1:p.Ala1179=
XM_005266431.4:c.3501C>A	XP_005266488.1:p.Ala1167=
XM_006719837.3:c.3441C>A	XP_006719900.1:p.Ala1147=
XM_011535117.3:c.3441C>A	XP_011533419.1:p.Ala1147=
XM_017020627.1:c.3441C>A	XP_016876116.1:p.Ala1147=
NM_000053.4:c.3537C>A MANE Select	NP_000044.2:p.Ala1179=
NM_001005918.3:c.2916C>A	NP_001005918.1:p.Ala972=
NM_001330579.2:c.3285C>A	NP_001317508.1:p.Ala1095=
NM_001243182.2:c.3204C>A	NP_001230111.1:p.Ala1068=
NM_001330578.2:c.3303C>A	NP_001317507.1:p.Ala1101=