Canonical Allele Identifier: CA388021158

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511496G>T (hg19) ; chr13:g.51937360G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937360G>T , CM000675.2:g.51937360G>T	GRCh38
NC_000013.10:g.52511496G>T , CM000675.1:g.52511496G>T	GRCh37
NC_000013.9:g.51409497G>T	NCBI36
NG_008806.1:g.79135C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1587C>A	ENSP00000489512.2:n.*1587C>A
ENST00000673864.2:c.*2681C>A	ENSP00000501045.2:n.*2681C>A
ENST00000674147.2:c.3316C>A	ENSP00000500964.2:p.Leu1106Ile
ENST00000242839.10:c.3937C>A MANE Select	ENSP00000242839.5:p.Leu1313Ile
ENST00000344297.9:c.3316C>A	ENSP00000342559.5:p.Leu1106Ile
ENST00000400366.6:c.3604C>A	ENSP00000383217.3:p.Leu1202Ile
ENST00000448424.7:c.3685C>A	ENSP00000416738.3:p.Leu1229Ile
ENST00000673696.1:n.1260C>A
ENST00000673772.1:c.3703C>A	ENSP00000501168.1:p.Leu1235Ile
ENST00000673867.1:n.4076C>A
ENST00000673923.1:n.803C>A
ENST00000674147.1:c.2872C>A	ENSP00000500964.1:p.Leu958Ile
ENST00000242839.8:c.3937C>A	ENSP00000242839.4:p.Leu1313Ile
ENST00000344297.8:c.3316C>A	ENSP00000342559.5:p.Leu1106Ile
ENST00000400366.5:c.3604C>A	ENSP00000383217.3:p.Leu1202Ile
ENST00000400370.8:c.2647C>A	ENSP00000383221.3:p.Leu883Ile
ENST00000418097.7:c.3742C>A	ENSP00000393343.2:p.Leu1248Ile
ENST00000448424.6:c.3703C>A	ENSP00000416738.2:p.Leu1235Ile
ENST00000634296.1:c.1715C>A
ENST00000634308.1:c.*1038C>A	ENSP00000489234.1:n.*1038C>A
ENST00000634620.1:n.4681C>A
ENST00000634810.1:n.3282C>A
ENST00000634844.1:c.3793C>A	ENSP00000489398.1:p.Leu1265Ile
NM_000053.3:c.3937C>A	NP_000044.2:p.Leu1313Ile
NM_001005918.2:c.3316C>A	NP_001005918.1:p.Leu1106Ile
NM_001243182.1:c.3604C>A	NP_001230111.1:p.Leu1202Ile
XM_005266423.2:c.3841C>A	XP_005266480.1:p.Leu1281Ile
XM_005266424.3:c.3841C>A	XP_005266481.1:p.Leu1281Ile
XM_005266427.2:c.3703C>A	XP_005266484.1:p.Leu1235Ile
XM_005266428.1:c.3685C>A	XP_005266485.1:p.Leu1229Ile
XM_005266430.3:c.3937C>A	XP_005266487.1:p.Leu1313Ile
XM_005266431.2:c.3901C>A	XP_005266488.1:p.Leu1301Ile
XM_005266432.2:c.3451C>A	XP_005266489.1:p.Leu1151Ile
XM_006719837.2:c.3841C>A	XP_006719900.1:p.Leu1281Ile
XM_006719838.1:c.1753C>A	XP_006719901.1:p.Leu585Ile
XM_006719839.1:c.1570C>A	XP_006719902.1:p.Leu524Ile
XM_011535117.1:c.3841C>A	XP_011533419.1:p.Leu1281Ile
XM_011535118.1:c.3802C>A	XP_011533420.1:p.Leu1268Ile
XM_011535119.1:c.3754C>A	XP_011533421.1:p.Leu1252Ile
XM_011535120.1:c.3523C>A	XP_011533422.1:p.Leu1175Ile
XM_011535121.1:c.3424C>A	XP_011533423.1:p.Leu1142Ile
XM_011535122.1:c.2605C>A	XP_011533424.1:p.Leu869Ile
XR_941601.1:n.4156C>A
XR_941602.1:n.4156C>A
XR_941603.1:n.4156C>A
XR_941604.1:n.4156C>A
NM_001330578.1:c.3703C>A	NP_001317507.1:p.Leu1235Ile
NM_001330579.1:c.3685C>A	NP_001317508.1:p.Leu1229Ile
XM_005266424.4:c.3841C>A	XP_005266481.1:p.Leu1281Ile
XM_005266430.4:c.3937C>A	XP_005266487.1:p.Leu1313Ile
XM_005266431.4:c.3901C>A	XP_005266488.1:p.Leu1301Ile
XM_006719837.3:c.3841C>A	XP_006719900.1:p.Leu1281Ile
XM_011535117.3:c.3841C>A	XP_011533419.1:p.Leu1281Ile
XM_017020627.1:c.3841C>A	XP_016876116.1:p.Leu1281Ile
NM_000053.4:c.3937C>A MANE Select	NP_000044.2:p.Leu1313Ile
NM_001005918.3:c.3316C>A	NP_001005918.1:p.Leu1106Ile
NM_001330579.2:c.3685C>A	NP_001317508.1:p.Leu1229Ile
NM_001243182.2:c.3604C>A	NP_001230111.1:p.Leu1202Ile
NM_001330578.2:c.3703C>A	NP_001317507.1:p.Leu1235Ile