Canonical Allele Identifier: CA388021358

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511615G>C (hg19) ; chr13:g.51937479G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937479G>C , CM000675.2:g.51937479G>C	GRCh38
NC_000013.10:g.52511615G>C , CM000675.1:g.52511615G>C	GRCh37
NC_000013.9:g.51409616G>C	NCBI36
NG_008806.1:g.79016C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1550C>G	ENSP00000489512.2:n.*1550C>G
ENST00000673864.2:c.*2644C>G	ENSP00000501045.2:n.*2644C>G
ENST00000674147.2:c.3279C>G	ENSP00000500964.2:p.Ile1093Met
ENST00000242839.10:c.3900C>G MANE Select	ENSP00000242839.5:p.Ile1300Met
ENST00000344297.9:c.3279C>G	ENSP00000342559.5:p.Ile1093Met
ENST00000400366.6:c.3567C>G	ENSP00000383217.3:p.Ile1189Met
ENST00000448424.7:c.3648C>G	ENSP00000416738.3:p.Ile1216Met
ENST00000673696.1:n.1141C>G
ENST00000673772.1:c.3666C>G	ENSP00000501168.1:p.Ile1222Met
ENST00000673867.1:n.4039C>G
ENST00000673923.1:n.766C>G
ENST00000674147.1:c.2835C>G	ENSP00000500964.1:p.Ile945Met
ENST00000242839.8:c.3900C>G	ENSP00000242839.4:p.Ile1300Met
ENST00000344297.8:c.3279C>G	ENSP00000342559.5:p.Ile1093Met
ENST00000400366.5:c.3567C>G	ENSP00000383217.3:p.Ile1189Met
ENST00000400370.8:c.2610C>G	ENSP00000383221.3:p.Ile870Met
ENST00000418097.7:c.3705C>G	ENSP00000393343.2:p.Ile1235Met
ENST00000448424.6:c.3666C>G	ENSP00000416738.2:p.Ile1222Met
ENST00000634296.1:c.1678C>G
ENST00000634308.1:c.*1001C>G	ENSP00000489234.1:n.*1001C>G
ENST00000634620.1:n.4644C>G
ENST00000634810.1:n.3245C>G
ENST00000634844.1:c.3756C>G	ENSP00000489398.1:p.Ile1252Met
NM_000053.3:c.3900C>G	NP_000044.2:p.Ile1300Met
NM_001005918.2:c.3279C>G	NP_001005918.1:p.Ile1093Met
NM_001243182.1:c.3567C>G	NP_001230111.1:p.Ile1189Met
XM_005266423.2:c.3804C>G	XP_005266480.1:p.Ile1268Met
XM_005266424.3:c.3804C>G	XP_005266481.1:p.Ile1268Met
XM_005266427.2:c.3666C>G	XP_005266484.1:p.Ile1222Met
XM_005266428.1:c.3648C>G	XP_005266485.1:p.Ile1216Met
XM_005266430.3:c.3900C>G	XP_005266487.1:p.Ile1300Met
XM_005266431.2:c.3864C>G	XP_005266488.1:p.Ile1288Met
XM_005266432.2:c.3414C>G	XP_005266489.1:p.Ile1138Met
XM_006719837.2:c.3804C>G	XP_006719900.1:p.Ile1268Met
XM_006719838.1:c.1716C>G	XP_006719901.1:p.Ile572Met
XM_006719839.1:c.1533C>G	XP_006719902.1:p.Ile511Met
XM_011535117.1:c.3804C>G	XP_011533419.1:p.Ile1268Met
XM_011535118.1:c.3765C>G	XP_011533420.1:p.Ile1255Met
XM_011535119.1:c.3717C>G	XP_011533421.1:p.Ile1239Met
XM_011535120.1:c.3486C>G	XP_011533422.1:p.Ile1162Met
XM_011535121.1:c.3387C>G	XP_011533423.1:p.Ile1129Met
XM_011535122.1:c.2568C>G	XP_011533424.1:p.Ile856Met
XR_941601.1:n.4119C>G
XR_941602.1:n.4119C>G
XR_941603.1:n.4119C>G
XR_941604.1:n.4119C>G
NM_001330578.1:c.3666C>G	NP_001317507.1:p.Ile1222Met
NM_001330579.1:c.3648C>G	NP_001317508.1:p.Ile1216Met
XM_005266424.4:c.3804C>G	XP_005266481.1:p.Ile1268Met
XM_005266430.4:c.3900C>G	XP_005266487.1:p.Ile1300Met
XM_005266431.4:c.3864C>G	XP_005266488.1:p.Ile1288Met
XM_006719837.3:c.3804C>G	XP_006719900.1:p.Ile1268Met
XM_011535117.3:c.3804C>G	XP_011533419.1:p.Ile1268Met
XM_017020627.1:c.3804C>G	XP_016876116.1:p.Ile1268Met
NM_000053.4:c.3900C>G MANE Select	NP_000044.2:p.Ile1300Met
NM_001005918.3:c.3279C>G	NP_001005918.1:p.Ile1093Met
NM_001330579.2:c.3648C>G	NP_001317508.1:p.Ile1216Met
NM_001243182.2:c.3567C>G	NP_001230111.1:p.Ile1189Met
NM_001330578.2:c.3666C>G	NP_001317507.1:p.Ile1222Met