Canonical Allele Identifier: CA388021156

Gene: ATP7B

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1587C>T	ENSP00000489512.2:n.*1587C>T
ENST00000673864.2:c.*2681C>T	ENSP00000501045.2:n.*2681C>T
ENST00000674147.2:c.3316C>T	ENSP00000500964.2:p.Leu1106Phe
ENST00000242839.10:c.3937C>T MANE Select	ENSP00000242839.5:p.Leu1313Phe
ENST00000344297.9:c.3316C>T	ENSP00000342559.5:p.Leu1106Phe
ENST00000400366.6:c.3604C>T	ENSP00000383217.3:p.Leu1202Phe
ENST00000448424.7:c.3685C>T	ENSP00000416738.3:p.Leu1229Phe
ENST00000673696.1:n.1260C>T
ENST00000673772.1:c.3703C>T	ENSP00000501168.1:p.Leu1235Phe
ENST00000673867.1:n.4076C>T
ENST00000673923.1:n.803C>T
ENST00000674147.1:c.2872C>T	ENSP00000500964.1:p.Leu958Phe
ENST00000242839.8:c.3937C>T	ENSP00000242839.4:p.Leu1313Phe
ENST00000344297.8:c.3316C>T	ENSP00000342559.5:p.Leu1106Phe
ENST00000400366.5:c.3604C>T	ENSP00000383217.3:p.Leu1202Phe
ENST00000400370.8:c.2647C>T	ENSP00000383221.3:p.Leu883Phe
ENST00000418097.7:c.3742C>T	ENSP00000393343.2:p.Leu1248Phe
ENST00000448424.6:c.3703C>T	ENSP00000416738.2:p.Leu1235Phe
ENST00000634296.1:c.1715C>T
ENST00000634308.1:c.*1038C>T	ENSP00000489234.1:n.*1038C>T
ENST00000634620.1:n.4681C>T
ENST00000634810.1:n.3282C>T
ENST00000634844.1:c.3793C>T	ENSP00000489398.1:p.Leu1265Phe
NM_000053.3:c.3937C>T	NP_000044.2:p.Leu1313Phe
NM_001005918.2:c.3316C>T	NP_001005918.1:p.Leu1106Phe
NM_001243182.1:c.3604C>T	NP_001230111.1:p.Leu1202Phe
XM_005266423.2:c.3841C>T	XP_005266480.1:p.Leu1281Phe
XM_005266424.3:c.3841C>T	XP_005266481.1:p.Leu1281Phe
XM_005266427.2:c.3703C>T	XP_005266484.1:p.Leu1235Phe
XM_005266428.1:c.3685C>T	XP_005266485.1:p.Leu1229Phe
XM_005266430.3:c.3937C>T	XP_005266487.1:p.Leu1313Phe
XM_005266431.2:c.3901C>T	XP_005266488.1:p.Leu1301Phe
XM_005266432.2:c.3451C>T	XP_005266489.1:p.Leu1151Phe
XM_006719837.2:c.3841C>T	XP_006719900.1:p.Leu1281Phe
XM_006719838.1:c.1753C>T	XP_006719901.1:p.Leu585Phe
XM_006719839.1:c.1570C>T	XP_006719902.1:p.Leu524Phe
XM_011535117.1:c.3841C>T	XP_011533419.1:p.Leu1281Phe
XM_011535118.1:c.3802C>T	XP_011533420.1:p.Leu1268Phe
XM_011535119.1:c.3754C>T	XP_011533421.1:p.Leu1252Phe
XM_011535120.1:c.3523C>T	XP_011533422.1:p.Leu1175Phe
XM_011535121.1:c.3424C>T	XP_011533423.1:p.Leu1142Phe
XM_011535122.1:c.2605C>T	XP_011533424.1:p.Leu869Phe
XR_941601.1:n.4156C>T
XR_941602.1:n.4156C>T
XR_941603.1:n.4156C>T
XR_941604.1:n.4156C>T
NM_001330578.1:c.3703C>T	NP_001317507.1:p.Leu1235Phe
NM_001330579.1:c.3685C>T	NP_001317508.1:p.Leu1229Phe
XM_005266424.4:c.3841C>T	XP_005266481.1:p.Leu1281Phe
XM_005266430.4:c.3937C>T	XP_005266487.1:p.Leu1313Phe
XM_005266431.4:c.3901C>T	XP_005266488.1:p.Leu1301Phe
XM_006719837.3:c.3841C>T	XP_006719900.1:p.Leu1281Phe
XM_011535117.3:c.3841C>T	XP_011533419.1:p.Leu1281Phe
XM_017020627.1:c.3841C>T	XP_016876116.1:p.Leu1281Phe
NM_000053.4:c.3937C>T MANE Select	NP_000044.2:p.Leu1313Phe
NM_001005918.3:c.3316C>T	NP_001005918.1:p.Leu1106Phe
NM_001330579.2:c.3685C>T	NP_001317508.1:p.Leu1229Phe
NM_001243182.2:c.3604C>T	NP_001230111.1:p.Leu1202Phe
NM_001330578.2:c.3703C>T	NP_001317507.1:p.Leu1235Phe