Canonical Allele Identifier: CA388021171

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51937363-G-T
• MyVariant Identifiers: chr13:g.52511499G>T (hg19) ; chr13:g.51937363G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937363G>T , CM000675.2:g.51937363G>T	GRCh38
NC_000013.10:g.52511499G>T , CM000675.1:g.52511499G>T	GRCh37
NC_000013.9:g.51409500G>T	NCBI36
NG_008806.1:g.79132C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1584C>A	ENSP00000489512.2:n.*1584C>A
ENST00000673864.2:c.*2678C>A	ENSP00000501045.2:n.*2678C>A
ENST00000674147.2:c.3313C>A	ENSP00000500964.2:p.His1105Asn
ENST00000242839.10:c.3934C>A MANE Select	ENSP00000242839.5:p.His1312Asn
ENST00000344297.9:c.3313C>A	ENSP00000342559.5:p.His1105Asn
ENST00000400366.6:c.3601C>A	ENSP00000383217.3:p.His1201Asn
ENST00000448424.7:c.3682C>A	ENSP00000416738.3:p.His1228Asn
ENST00000673696.1:n.1257C>A
ENST00000673772.1:c.3700C>A	ENSP00000501168.1:p.His1234Asn
ENST00000673867.1:n.4073C>A
ENST00000673923.1:n.800C>A
ENST00000674147.1:c.2869C>A	ENSP00000500964.1:p.His957Asn
ENST00000242839.8:c.3934C>A	ENSP00000242839.4:p.His1312Asn
ENST00000344297.8:c.3313C>A	ENSP00000342559.5:p.His1105Asn
ENST00000400366.5:c.3601C>A	ENSP00000383217.3:p.His1201Asn
ENST00000400370.8:c.2644C>A	ENSP00000383221.3:p.His882Asn
ENST00000418097.7:c.3739C>A	ENSP00000393343.2:p.His1247Asn
ENST00000448424.6:c.3700C>A	ENSP00000416738.2:p.His1234Asn
ENST00000634296.1:c.1712C>A
ENST00000634308.1:c.*1035C>A	ENSP00000489234.1:n.*1035C>A
ENST00000634620.1:n.4678C>A
ENST00000634810.1:n.3279C>A
ENST00000634844.1:c.3790C>A	ENSP00000489398.1:p.His1264Asn
NM_000053.3:c.3934C>A	NP_000044.2:p.His1312Asn
NM_001005918.2:c.3313C>A	NP_001005918.1:p.His1105Asn
NM_001243182.1:c.3601C>A	NP_001230111.1:p.His1201Asn
XM_005266423.2:c.3838C>A	XP_005266480.1:p.His1280Asn
XM_005266424.3:c.3838C>A	XP_005266481.1:p.His1280Asn
XM_005266427.2:c.3700C>A	XP_005266484.1:p.His1234Asn
XM_005266428.1:c.3682C>A	XP_005266485.1:p.His1228Asn
XM_005266430.3:c.3934C>A	XP_005266487.1:p.His1312Asn
XM_005266431.2:c.3898C>A	XP_005266488.1:p.His1300Asn
XM_005266432.2:c.3448C>A	XP_005266489.1:p.His1150Asn
XM_006719837.2:c.3838C>A	XP_006719900.1:p.His1280Asn
XM_006719838.1:c.1750C>A	XP_006719901.1:p.His584Asn
XM_006719839.1:c.1567C>A	XP_006719902.1:p.His523Asn
XM_011535117.1:c.3838C>A	XP_011533419.1:p.His1280Asn
XM_011535118.1:c.3799C>A	XP_011533420.1:p.His1267Asn
XM_011535119.1:c.3751C>A	XP_011533421.1:p.His1251Asn
XM_011535120.1:c.3520C>A	XP_011533422.1:p.His1174Asn
XM_011535121.1:c.3421C>A	XP_011533423.1:p.His1141Asn
XM_011535122.1:c.2602C>A	XP_011533424.1:p.His868Asn
XR_941601.1:n.4153C>A
XR_941602.1:n.4153C>A
XR_941603.1:n.4153C>A
XR_941604.1:n.4153C>A
NM_001330578.1:c.3700C>A	NP_001317507.1:p.His1234Asn
NM_001330579.1:c.3682C>A	NP_001317508.1:p.His1228Asn
XM_005266424.4:c.3838C>A	XP_005266481.1:p.His1280Asn
XM_005266430.4:c.3934C>A	XP_005266487.1:p.His1312Asn
XM_005266431.4:c.3898C>A	XP_005266488.1:p.His1300Asn
XM_006719837.3:c.3838C>A	XP_006719900.1:p.His1280Asn
XM_011535117.3:c.3838C>A	XP_011533419.1:p.His1280Asn
XM_017020627.1:c.3838C>A	XP_016876116.1:p.His1280Asn
NM_000053.4:c.3934C>A MANE Select	NP_000044.2:p.His1312Asn
NM_001005918.3:c.3313C>A	NP_001005918.1:p.His1105Asn
NM_001330579.2:c.3682C>A	NP_001317508.1:p.His1228Asn
NM_001243182.2:c.3601C>A	NP_001230111.1:p.His1201Asn
NM_001330578.2:c.3700C>A	NP_001317507.1:p.His1234Asn