Canonical Allele Identifier: CA388021367

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511617T>G (hg19) ; chr13:g.51937481T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937481T>G , CM000675.2:g.51937481T>G	GRCh38
NC_000013.10:g.52511617T>G , CM000675.1:g.52511617T>G	GRCh37
NC_000013.9:g.51409618T>G	NCBI36
NG_008806.1:g.79014A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1548A>C	ENSP00000489512.2:n.*1548A>C
ENST00000673864.2:c.*2642A>C	ENSP00000501045.2:n.*2642A>C
ENST00000674147.2:c.3277A>C	ENSP00000500964.2:p.Ile1093Leu
ENST00000242839.10:c.3898A>C MANE Select	ENSP00000242839.5:p.Ile1300Leu
ENST00000344297.9:c.3277A>C	ENSP00000342559.5:p.Ile1093Leu
ENST00000400366.6:c.3565A>C	ENSP00000383217.3:p.Ile1189Leu
ENST00000448424.7:c.3646A>C	ENSP00000416738.3:p.Ile1216Leu
ENST00000673696.1:n.1139A>C
ENST00000673772.1:c.3664A>C	ENSP00000501168.1:p.Ile1222Leu
ENST00000673867.1:n.4037A>C
ENST00000673923.1:n.764A>C
ENST00000674147.1:c.2833A>C	ENSP00000500964.1:p.Ile945Leu
ENST00000242839.8:c.3898A>C	ENSP00000242839.4:p.Ile1300Leu
ENST00000344297.8:c.3277A>C	ENSP00000342559.5:p.Ile1093Leu
ENST00000400366.5:c.3565A>C	ENSP00000383217.3:p.Ile1189Leu
ENST00000400370.8:c.2608A>C	ENSP00000383221.3:p.Ile870Leu
ENST00000418097.7:c.3703A>C	ENSP00000393343.2:p.Ile1235Leu
ENST00000448424.6:c.3664A>C	ENSP00000416738.2:p.Ile1222Leu
ENST00000634296.1:c.1676A>C
ENST00000634308.1:c.*999A>C	ENSP00000489234.1:n.*999A>C
ENST00000634620.1:n.4642A>C
ENST00000634810.1:n.3243A>C
ENST00000634844.1:c.3754A>C	ENSP00000489398.1:p.Ile1252Leu
NM_000053.3:c.3898A>C	NP_000044.2:p.Ile1300Leu
NM_001005918.2:c.3277A>C	NP_001005918.1:p.Ile1093Leu
NM_001243182.1:c.3565A>C	NP_001230111.1:p.Ile1189Leu
XM_005266423.2:c.3802A>C	XP_005266480.1:p.Ile1268Leu
XM_005266424.3:c.3802A>C	XP_005266481.1:p.Ile1268Leu
XM_005266427.2:c.3664A>C	XP_005266484.1:p.Ile1222Leu
XM_005266428.1:c.3646A>C	XP_005266485.1:p.Ile1216Leu
XM_005266430.3:c.3898A>C	XP_005266487.1:p.Ile1300Leu
XM_005266431.2:c.3862A>C	XP_005266488.1:p.Ile1288Leu
XM_005266432.2:c.3412A>C	XP_005266489.1:p.Ile1138Leu
XM_006719837.2:c.3802A>C	XP_006719900.1:p.Ile1268Leu
XM_006719838.1:c.1714A>C	XP_006719901.1:p.Ile572Leu
XM_006719839.1:c.1531A>C	XP_006719902.1:p.Ile511Leu
XM_011535117.1:c.3802A>C	XP_011533419.1:p.Ile1268Leu
XM_011535118.1:c.3763A>C	XP_011533420.1:p.Ile1255Leu
XM_011535119.1:c.3715A>C	XP_011533421.1:p.Ile1239Leu
XM_011535120.1:c.3484A>C	XP_011533422.1:p.Ile1162Leu
XM_011535121.1:c.3385A>C	XP_011533423.1:p.Ile1129Leu
XM_011535122.1:c.2566A>C	XP_011533424.1:p.Ile856Leu
XR_941601.1:n.4117A>C
XR_941602.1:n.4117A>C
XR_941603.1:n.4117A>C
XR_941604.1:n.4117A>C
NM_001330578.1:c.3664A>C	NP_001317507.1:p.Ile1222Leu
NM_001330579.1:c.3646A>C	NP_001317508.1:p.Ile1216Leu
XM_005266424.4:c.3802A>C	XP_005266481.1:p.Ile1268Leu
XM_005266430.4:c.3898A>C	XP_005266487.1:p.Ile1300Leu
XM_005266431.4:c.3862A>C	XP_005266488.1:p.Ile1288Leu
XM_006719837.3:c.3802A>C	XP_006719900.1:p.Ile1268Leu
XM_011535117.3:c.3802A>C	XP_011533419.1:p.Ile1268Leu
XM_017020627.1:c.3802A>C	XP_016876116.1:p.Ile1268Leu
NM_000053.4:c.3898A>C MANE Select	NP_000044.2:p.Ile1300Leu
NM_001005918.3:c.3277A>C	NP_001005918.1:p.Ile1093Leu
NM_001330579.2:c.3646A>C	NP_001317508.1:p.Ile1216Leu
NM_001243182.2:c.3565A>C	NP_001230111.1:p.Ile1189Leu
NM_001330578.2:c.3664A>C	NP_001317507.1:p.Ile1222Leu