Canonical Allele Identifier: CA388021178

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511502T>A (hg19) ; chr13:g.51937366T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937366T>A , CM000675.2:g.51937366T>A	GRCh38
NC_000013.10:g.52511502T>A , CM000675.1:g.52511502T>A	GRCh37
NC_000013.9:g.51409503T>A	NCBI36
NG_008806.1:g.79129A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1581A>T	ENSP00000489512.2:n.*1581A>T
ENST00000673864.2:c.*2675A>T	ENSP00000501045.2:n.*2675A>T
ENST00000674147.2:c.3310A>T	ENSP00000500964.2:p.Ile1104Phe
ENST00000242839.10:c.3931A>T MANE Select	ENSP00000242839.5:p.Ile1311Phe
ENST00000344297.9:c.3310A>T	ENSP00000342559.5:p.Ile1104Phe
ENST00000400366.6:c.3598A>T	ENSP00000383217.3:p.Ile1200Phe
ENST00000448424.7:c.3679A>T	ENSP00000416738.3:p.Ile1227Phe
ENST00000673696.1:n.1254A>T
ENST00000673772.1:c.3697A>T	ENSP00000501168.1:p.Ile1233Phe
ENST00000673867.1:n.4070A>T
ENST00000673923.1:n.797A>T
ENST00000674147.1:c.2866A>T	ENSP00000500964.1:p.Ile956Phe
ENST00000242839.8:c.3931A>T	ENSP00000242839.4:p.Ile1311Phe
ENST00000344297.8:c.3310A>T	ENSP00000342559.5:p.Ile1104Phe
ENST00000400366.5:c.3598A>T	ENSP00000383217.3:p.Ile1200Phe
ENST00000400370.8:c.2641A>T	ENSP00000383221.3:p.Ile881Phe
ENST00000418097.7:c.3736A>T	ENSP00000393343.2:p.Ile1246Phe
ENST00000448424.6:c.3697A>T	ENSP00000416738.2:p.Ile1233Phe
ENST00000634296.1:c.1709A>T
ENST00000634308.1:c.*1032A>T	ENSP00000489234.1:n.*1032A>T
ENST00000634620.1:n.4675A>T
ENST00000634810.1:n.3276A>T
ENST00000634844.1:c.3787A>T	ENSP00000489398.1:p.Ile1263Phe
NM_000053.3:c.3931A>T	NP_000044.2:p.Ile1311Phe
NM_001005918.2:c.3310A>T	NP_001005918.1:p.Ile1104Phe
NM_001243182.1:c.3598A>T	NP_001230111.1:p.Ile1200Phe
XM_005266423.2:c.3835A>T	XP_005266480.1:p.Ile1279Phe
XM_005266424.3:c.3835A>T	XP_005266481.1:p.Ile1279Phe
XM_005266427.2:c.3697A>T	XP_005266484.1:p.Ile1233Phe
XM_005266428.1:c.3679A>T	XP_005266485.1:p.Ile1227Phe
XM_005266430.3:c.3931A>T	XP_005266487.1:p.Ile1311Phe
XM_005266431.2:c.3895A>T	XP_005266488.1:p.Ile1299Phe
XM_005266432.2:c.3445A>T	XP_005266489.1:p.Ile1149Phe
XM_006719837.2:c.3835A>T	XP_006719900.1:p.Ile1279Phe
XM_006719838.1:c.1747A>T	XP_006719901.1:p.Ile583Phe
XM_006719839.1:c.1564A>T	XP_006719902.1:p.Ile522Phe
XM_011535117.1:c.3835A>T	XP_011533419.1:p.Ile1279Phe
XM_011535118.1:c.3796A>T	XP_011533420.1:p.Ile1266Phe
XM_011535119.1:c.3748A>T	XP_011533421.1:p.Ile1250Phe
XM_011535120.1:c.3517A>T	XP_011533422.1:p.Ile1173Phe
XM_011535121.1:c.3418A>T	XP_011533423.1:p.Ile1140Phe
XM_011535122.1:c.2599A>T	XP_011533424.1:p.Ile867Phe
XR_941601.1:n.4150A>T
XR_941602.1:n.4150A>T
XR_941603.1:n.4150A>T
XR_941604.1:n.4150A>T
NM_001330578.1:c.3697A>T	NP_001317507.1:p.Ile1233Phe
NM_001330579.1:c.3679A>T	NP_001317508.1:p.Ile1227Phe
XM_005266424.4:c.3835A>T	XP_005266481.1:p.Ile1279Phe
XM_005266430.4:c.3931A>T	XP_005266487.1:p.Ile1311Phe
XM_005266431.4:c.3895A>T	XP_005266488.1:p.Ile1299Phe
XM_006719837.3:c.3835A>T	XP_006719900.1:p.Ile1279Phe
XM_011535117.3:c.3835A>T	XP_011533419.1:p.Ile1279Phe
XM_017020627.1:c.3835A>T	XP_016876116.1:p.Ile1279Phe
NM_000053.4:c.3931A>T MANE Select	NP_000044.2:p.Ile1311Phe
NM_001005918.3:c.3310A>T	NP_001005918.1:p.Ile1104Phe
NM_001330579.2:c.3679A>T	NP_001317508.1:p.Ile1227Phe
NM_001243182.2:c.3598A>T	NP_001230111.1:p.Ile1200Phe
NM_001330578.2:c.3697A>T	NP_001317507.1:p.Ile1233Phe