Canonical Allele Identifier: CA388020891

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511442A>G (hg19) ; chr13:g.51937306A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937306A>G , CM000675.2:g.51937306A>G	GRCh38
NC_000013.10:g.52511442A>G , CM000675.1:g.52511442A>G	GRCh37
NC_000013.9:g.51409443A>G	NCBI36
NG_008806.1:g.79189T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1641T>C	ENSP00000489512.2:n.*1641T>C
ENST00000673864.2:c.*2735T>C	ENSP00000501045.2:n.*2735T>C
ENST00000674147.2:c.3370T>C	ENSP00000500964.2:p.Tyr1124His
ENST00000242839.10:c.3991T>C MANE Select	ENSP00000242839.5:p.Tyr1331His
ENST00000344297.9:c.3370T>C	ENSP00000342559.5:p.Tyr1124His
ENST00000400366.6:c.3658T>C	ENSP00000383217.3:p.Tyr1220His
ENST00000448424.7:c.3739T>C	ENSP00000416738.3:p.Tyr1247His
ENST00000673696.1:n.1314T>C
ENST00000673772.1:c.3757T>C	ENSP00000501168.1:p.Tyr1253His
ENST00000673867.1:n.4130T>C
ENST00000673923.1:n.857T>C
ENST00000674147.1:c.2926T>C	ENSP00000500964.1:p.Tyr976His
ENST00000242839.8:c.3991T>C	ENSP00000242839.4:p.Tyr1331His
ENST00000344297.8:c.3370T>C	ENSP00000342559.5:p.Tyr1124His
ENST00000400366.5:c.3658T>C	ENSP00000383217.3:p.Tyr1220His
ENST00000400370.8:c.2701T>C	ENSP00000383221.3:p.Tyr901His
ENST00000418097.7:c.3796T>C	ENSP00000393343.2:p.Tyr1266His
ENST00000448424.6:c.3757T>C	ENSP00000416738.2:p.Tyr1253His
ENST00000634296.1:c.1769T>C
ENST00000634308.1:c.*1092T>C	ENSP00000489234.1:n.*1092T>C
ENST00000634620.1:n.4735T>C
ENST00000634810.1:n.3336T>C
ENST00000634844.1:c.3847T>C	ENSP00000489398.1:p.Tyr1283His
NM_000053.3:c.3991T>C	NP_000044.2:p.Tyr1331His
NM_001005918.2:c.3370T>C	NP_001005918.1:p.Tyr1124His
NM_001243182.1:c.3658T>C	NP_001230111.1:p.Tyr1220His
XM_005266423.2:c.3895T>C	XP_005266480.1:p.Tyr1299His
XM_005266424.3:c.3895T>C	XP_005266481.1:p.Tyr1299His
XM_005266427.2:c.3757T>C	XP_005266484.1:p.Tyr1253His
XM_005266428.1:c.3739T>C	XP_005266485.1:p.Tyr1247His
XM_005266430.3:c.3991T>C	XP_005266487.1:p.Tyr1331His
XM_005266431.2:c.3955T>C	XP_005266488.1:p.Tyr1319His
XM_005266432.2:c.3505T>C	XP_005266489.1:p.Tyr1169His
XM_006719837.2:c.3895T>C	XP_006719900.1:p.Tyr1299His
XM_006719838.1:c.1807T>C	XP_006719901.1:p.Tyr603His
XM_006719839.1:c.1624T>C	XP_006719902.1:p.Tyr542His
XM_011535117.1:c.3895T>C	XP_011533419.1:p.Tyr1299His
XM_011535118.1:c.3856T>C	XP_011533420.1:p.Tyr1286His
XM_011535119.1:c.3808T>C	XP_011533421.1:p.Tyr1270His
XM_011535120.1:c.3577T>C	XP_011533422.1:p.Tyr1193His
XM_011535121.1:c.3478T>C	XP_011533423.1:p.Tyr1160His
XM_011535122.1:c.2659T>C	XP_011533424.1:p.Tyr887His
XR_941601.1:n.4210T>C
XR_941602.1:n.4210T>C
XR_941603.1:n.4210T>C
XR_941604.1:n.4210T>C
NM_001330578.1:c.3757T>C	NP_001317507.1:p.Tyr1253His
NM_001330579.1:c.3739T>C	NP_001317508.1:p.Tyr1247His
XM_005266424.4:c.3895T>C	XP_005266481.1:p.Tyr1299His
XM_005266430.4:c.3991T>C	XP_005266487.1:p.Tyr1331His
XM_005266431.4:c.3955T>C	XP_005266488.1:p.Tyr1319His
XM_006719837.3:c.3895T>C	XP_006719900.1:p.Tyr1299His
XM_011535117.3:c.3895T>C	XP_011533419.1:p.Tyr1299His
XM_017020627.1:c.3895T>C	XP_016876116.1:p.Tyr1299His
NM_000053.4:c.3991T>C MANE Select	NP_000044.2:p.Tyr1331His
NM_001005918.3:c.3370T>C	NP_001005918.1:p.Tyr1124His
NM_001330579.2:c.3739T>C	NP_001317508.1:p.Tyr1247His
NM_001243182.2:c.3658T>C	NP_001230111.1:p.Tyr1220His
NM_001330578.2:c.3757T>C	NP_001317507.1:p.Tyr1253His