Canonical Allele Identifier: CA388021412

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511626C>G (hg19) ; chr13:g.51937490C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937490C>G , CM000675.2:g.51937490C>G	GRCh38
NC_000013.10:g.52511626C>G , CM000675.1:g.52511626C>G	GRCh37
NC_000013.9:g.51409627C>G	NCBI36
NG_008806.1:g.79005G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1539G>C	ENSP00000489512.2:n.*1539G>C
ENST00000673864.2:c.*2633G>C	ENSP00000501045.2:n.*2633G>C
ENST00000674147.2:c.3268G>C	ENSP00000500964.2:p.Val1090Leu
ENST00000242839.10:c.3889G>C MANE Select	ENSP00000242839.5:p.Val1297Leu
ENST00000344297.9:c.3268G>C	ENSP00000342559.5:p.Val1090Leu
ENST00000400366.6:c.3556G>C	ENSP00000383217.3:p.Val1186Leu
ENST00000448424.7:c.3637G>C	ENSP00000416738.3:p.Val1213Leu
ENST00000673696.1:n.1130G>C
ENST00000673772.1:c.3655G>C	ENSP00000501168.1:p.Val1219Leu
ENST00000673867.1:n.4028G>C
ENST00000673923.1:n.755G>C
ENST00000674147.1:c.2824G>C	ENSP00000500964.1:p.Val942Leu
ENST00000242839.8:c.3889G>C	ENSP00000242839.4:p.Val1297Leu
ENST00000344297.8:c.3268G>C	ENSP00000342559.5:p.Val1090Leu
ENST00000400366.5:c.3556G>C	ENSP00000383217.3:p.Val1186Leu
ENST00000400370.8:c.2599G>C	ENSP00000383221.3:p.Val867Leu
ENST00000418097.7:c.3694G>C	ENSP00000393343.2:p.Val1232Leu
ENST00000448424.6:c.3655G>C	ENSP00000416738.2:p.Val1219Leu
ENST00000634296.1:c.1667G>C
ENST00000634308.1:c.*990G>C	ENSP00000489234.1:n.*990G>C
ENST00000634620.1:n.4633G>C
ENST00000634810.1:n.3234G>C
ENST00000634844.1:c.3745G>C	ENSP00000489398.1:p.Val1249Leu
NM_000053.3:c.3889G>C	NP_000044.2:p.Val1297Leu
NM_001005918.2:c.3268G>C	NP_001005918.1:p.Val1090Leu
NM_001243182.1:c.3556G>C	NP_001230111.1:p.Val1186Leu
XM_005266423.2:c.3793G>C	XP_005266480.1:p.Val1265Leu
XM_005266424.3:c.3793G>C	XP_005266481.1:p.Val1265Leu
XM_005266427.2:c.3655G>C	XP_005266484.1:p.Val1219Leu
XM_005266428.1:c.3637G>C	XP_005266485.1:p.Val1213Leu
XM_005266430.3:c.3889G>C	XP_005266487.1:p.Val1297Leu
XM_005266431.2:c.3853G>C	XP_005266488.1:p.Val1285Leu
XM_005266432.2:c.3403G>C	XP_005266489.1:p.Val1135Leu
XM_006719837.2:c.3793G>C	XP_006719900.1:p.Val1265Leu
XM_006719838.1:c.1705G>C	XP_006719901.1:p.Val569Leu
XM_006719839.1:c.1522G>C	XP_006719902.1:p.Val508Leu
XM_011535117.1:c.3793G>C	XP_011533419.1:p.Val1265Leu
XM_011535118.1:c.3754G>C	XP_011533420.1:p.Val1252Leu
XM_011535119.1:c.3706G>C	XP_011533421.1:p.Val1236Leu
XM_011535120.1:c.3475G>C	XP_011533422.1:p.Val1159Leu
XM_011535121.1:c.3376G>C	XP_011533423.1:p.Val1126Leu
XM_011535122.1:c.2557G>C	XP_011533424.1:p.Val853Leu
XR_941601.1:n.4108G>C
XR_941602.1:n.4108G>C
XR_941603.1:n.4108G>C
XR_941604.1:n.4108G>C
NM_001330578.1:c.3655G>C	NP_001317507.1:p.Val1219Leu
NM_001330579.1:c.3637G>C	NP_001317508.1:p.Val1213Leu
XM_005266424.4:c.3793G>C	XP_005266481.1:p.Val1265Leu
XM_005266430.4:c.3889G>C	XP_005266487.1:p.Val1297Leu
XM_005266431.4:c.3853G>C	XP_005266488.1:p.Val1285Leu
XM_006719837.3:c.3793G>C	XP_006719900.1:p.Val1265Leu
XM_011535117.3:c.3793G>C	XP_011533419.1:p.Val1265Leu
XM_017020627.1:c.3793G>C	XP_016876116.1:p.Val1265Leu
NM_000053.4:c.3889G>C MANE Select	NP_000044.2:p.Val1297Leu
NM_001005918.3:c.3268G>C	NP_001005918.1:p.Val1090Leu
NM_001330579.2:c.3637G>C	NP_001317508.1:p.Val1213Leu
NM_001243182.2:c.3556G>C	NP_001230111.1:p.Val1186Leu
NM_001330578.2:c.3655G>C	NP_001317507.1:p.Val1219Leu