Canonical Allele Identifier: CA388030134

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518337G>C (hg19) ; chr13:g.51944201G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944201G>C , CM000675.2:g.51944201G>C	GRCh38
NC_000013.10:g.52518337G>C , CM000675.1:g.52518337G>C	GRCh37
NC_000013.9:g.51416338G>C	NCBI36
NG_008806.1:g.72294C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1647C>G	ENSP00000489512.2:n.*894-1647C>G
ENST00000673864.2:c.*1895C>G	ENSP00000501045.2:n.*1895C>G
ENST00000674147.2:c.2530C>G	ENSP00000500964.2:p.Leu844Val
ENST00000242839.10:c.3151C>G MANE Select	ENSP00000242839.5:p.Leu1051Val
ENST00000344297.9:c.2530C>G	ENSP00000342559.5:p.Leu844Val
ENST00000400366.6:c.2818C>G	ENSP00000383217.3:p.Leu940Val
ENST00000448424.7:c.2899C>G	ENSP00000416738.3:p.Leu967Val
ENST00000673772.1:c.2917C>G	ENSP00000501168.1:p.Leu973Val
ENST00000673867.1:n.3290C>G
ENST00000674126.1:n.3514C>G
ENST00000674147.1:c.2086C>G	ENSP00000500964.1:p.Leu696Val
ENST00000242839.8:c.3151C>G	ENSP00000242839.4:p.Leu1051Val
ENST00000344297.8:c.2530C>G	ENSP00000342559.5:p.Leu844Val
ENST00000400366.5:c.2818C>G	ENSP00000383217.3:p.Leu940Val
ENST00000400370.8:c.1861C>G	ENSP00000383221.3:p.Leu621Val
ENST00000418097.7:c.2956C>G	ENSP00000393343.2:p.Leu986Val
ENST00000448424.6:c.2917C>G	ENSP00000416738.2:p.Leu973Val
ENST00000466629.1:n.371C>G
ENST00000634296.1:c.1022-1647C>G
ENST00000634308.1:c.*252C>G	ENSP00000489234.1:n.*252C>G
ENST00000634620.1:n.3895C>G
ENST00000634810.1:n.2496C>G
ENST00000634844.1:c.3007C>G	ENSP00000489398.1:p.Leu1003Val
ENST00000635406.1:n.497C>G
NM_000053.3:c.3151C>G	NP_000044.2:p.Leu1051Val
NM_001005918.2:c.2530C>G	NP_001005918.1:p.Leu844Val
NM_001243182.1:c.2818C>G	NP_001230111.1:p.Leu940Val
XM_005266423.2:c.3055C>G	XP_005266480.1:p.Leu1019Val
XM_005266424.3:c.3055C>G	XP_005266481.1:p.Leu1019Val
XM_005266427.2:c.2917C>G	XP_005266484.1:p.Leu973Val
XM_005266428.1:c.2899C>G	XP_005266485.1:p.Leu967Val
XM_005266430.3:c.3151C>G	XP_005266487.1:p.Leu1051Val
XM_005266431.2:c.3115C>G	XP_005266488.1:p.Leu1039Val
XM_005266432.2:c.2665C>G	XP_005266489.1:p.Leu889Val
XM_006719837.2:c.3055C>G	XP_006719900.1:p.Leu1019Val
XM_006719838.1:c.967C>G	XP_006719901.1:p.Leu323Val
XM_006719839.1:c.877-1647C>G	XP_006719902.1:n.877-1647C>G
XM_011535117.1:c.3055C>G	XP_011533419.1:p.Leu1019Val
XM_011535118.1:c.3016C>G	XP_011533420.1:p.Leu1006Val
XM_011535119.1:c.3061-1647C>G	XP_011533421.1:n.3061-1647C>G
XM_011535120.1:c.2737C>G	XP_011533422.1:p.Leu913Val
XM_011535121.1:c.2731-1647C>G	XP_011533423.1:n.2731-1647C>G
XM_011535122.1:c.1819C>G	XP_011533424.1:p.Leu607Val
XR_941601.1:n.3370C>G
XR_941602.1:n.3370C>G
XR_941603.1:n.3370C>G
XR_941604.1:n.3370C>G
NM_001330578.1:c.2917C>G	NP_001317507.1:p.Leu973Val
NM_001330579.1:c.2899C>G	NP_001317508.1:p.Leu967Val
XM_005266424.4:c.3055C>G	XP_005266481.1:p.Leu1019Val
XM_005266430.4:c.3151C>G	XP_005266487.1:p.Leu1051Val
XM_005266431.4:c.3115C>G	XP_005266488.1:p.Leu1039Val
XM_006719837.3:c.3055C>G	XP_006719900.1:p.Leu1019Val
XM_011535117.3:c.3055C>G	XP_011533419.1:p.Leu1019Val
XM_017020627.1:c.3055C>G	XP_016876116.1:p.Leu1019Val
NM_000053.4:c.3151C>G MANE Select	NP_000044.2:p.Leu1051Val
NM_001005918.3:c.2530C>G	NP_001005918.1:p.Leu844Val
NM_001330579.2:c.2899C>G	NP_001317508.1:p.Leu967Val
NM_001243182.2:c.2818C>G	NP_001230111.1:p.Leu940Val
NM_001330578.2:c.2917C>G	NP_001317507.1:p.Leu973Val