Canonical Allele Identifier: CA388033167

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52523800G>C (hg19) ; chr13:g.51949664G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51949664G>C , CM000675.2:g.51949664G>C	GRCh38
NC_000013.10:g.52523800G>C , CM000675.1:g.52523800G>C	GRCh37
NC_000013.9:g.51421801G>C	NCBI36
NG_008806.1:g.66831C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*696C>G	ENSP00000489512.2:n.*696C>G
ENST00000673864.2:c.*1607C>G	ENSP00000501045.2:n.*1607C>G
ENST00000674147.2:c.2244+343C>G	ENSP00000500964.2:n.2244+343C>G
ENST00000242839.10:c.2863C>G MANE Select	ENSP00000242839.5:p.Pro955Ala
ENST00000344297.9:c.2244+343C>G	ENSP00000342559.5:n.2244+343C>G
ENST00000400366.6:c.2530C>G	ENSP00000383217.3:p.Pro844Ala
ENST00000448424.7:c.2611C>G	ENSP00000416738.3:p.Pro871Ala
ENST00000673772.1:c.2629C>G	ENSP00000501168.1:p.Pro877Ala
ENST00000674126.1:n.43C>G
ENST00000674147.1:c.1800+343C>G	ENSP00000500964.1:n.1800+343C>G
ENST00000242839.8:c.2863C>G	ENSP00000242839.4:p.Pro955Ala
ENST00000344297.8:c.2244+343C>G	ENSP00000342559.5:n.2244+343C>G
ENST00000400366.5:c.2530C>G	ENSP00000383217.3:p.Pro844Ala
ENST00000400370.8:c.1573C>G	ENSP00000383221.3:p.Pro525Ala
ENST00000418097.7:c.2863C>G	ENSP00000393343.2:p.Pro955Ala
ENST00000448424.6:c.2629C>G	ENSP00000416738.2:p.Pro877Ala
ENST00000634296.1:c.824C>G
ENST00000634308.1:c.2629C>G	ENSP00000489234.1:p.Pro877Ala
ENST00000634620.1:n.3609+52C>G
ENST00000634810.1:n.2208C>G
ENST00000634844.1:c.2719C>G	ENSP00000489398.1:p.Pro907Ala
ENST00000635406.1:n.212-3186C>G
NM_000053.3:c.2863C>G	NP_000044.2:p.Pro955Ala
NM_001005918.2:c.2244+343C>G	NP_001005918.1:n.2244+343C>G
NM_001243182.1:c.2530C>G	NP_001230111.1:p.Pro844Ala
XM_005266423.2:c.2767C>G	XP_005266480.1:p.Pro923Ala
XM_005266424.3:c.2767C>G	XP_005266481.1:p.Pro923Ala
XM_005266427.2:c.2629C>G	XP_005266484.1:p.Pro877Ala
XM_005266428.1:c.2611C>G	XP_005266485.1:p.Pro871Ala
XM_005266430.3:c.2863C>G	XP_005266487.1:p.Pro955Ala
XM_005266431.2:c.2827C>G	XP_005266488.1:p.Pro943Ala
XM_005266432.2:c.2377C>G	XP_005266489.1:p.Pro793Ala
XM_006719837.2:c.2767C>G	XP_006719900.1:p.Pro923Ala
XM_006719838.1:c.679C>G	XP_006719901.1:p.Pro227Ala
XM_006719839.1:c.679C>G	XP_006719902.1:p.Pro227Ala
XM_011535117.1:c.2767C>G	XP_011533419.1:p.Pro923Ala
XM_011535118.1:c.2730+343C>G	XP_011533420.1:n.2730+343C>G
XM_011535119.1:c.2863C>G	XP_011533421.1:p.Pro955Ala
XM_011535120.1:c.2449C>G	XP_011533422.1:p.Pro817Ala
XM_011535121.1:c.2730+343C>G	XP_011533423.1:n.2730+343C>G
XM_011535122.1:c.1531C>G	XP_011533424.1:p.Pro511Ala
XR_941601.1:n.3082C>G
XR_941602.1:n.3082C>G
XR_941603.1:n.3082C>G
XR_941604.1:n.3082C>G
NM_001330578.1:c.2629C>G	NP_001317507.1:p.Pro877Ala
NM_001330579.1:c.2611C>G	NP_001317508.1:p.Pro871Ala
XM_005266424.4:c.2767C>G	XP_005266481.1:p.Pro923Ala
XM_005266430.4:c.2863C>G	XP_005266487.1:p.Pro955Ala
XM_005266431.4:c.2827C>G	XP_005266488.1:p.Pro943Ala
XM_006719837.3:c.2767C>G	XP_006719900.1:p.Pro923Ala
XM_011535117.3:c.2767C>G	XP_011533419.1:p.Pro923Ala
XM_017020627.1:c.2767C>G	XP_016876116.1:p.Pro923Ala
NM_000053.4:c.2863C>G MANE Select	NP_000044.2:p.Pro955Ala
NM_001005918.3:c.2244+343C>G	NP_001005918.1:n.2244+343C>G
NM_001330579.2:c.2611C>G	NP_001317508.1:p.Pro871Ala
NM_001243182.2:c.2530C>G	NP_001230111.1:p.Pro844Ala
NM_001330578.2:c.2629C>G	NP_001317507.1:p.Pro877Ala