Canonical Allele Identifier: CA388026009

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515237G>C (hg19) ; chr13:g.51941101G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941101G>C , CM000675.2:g.51941101G>C	GRCh38
NC_000013.10:g.52515237G>C , CM000675.1:g.52515237G>C	GRCh37
NC_000013.9:g.51413238G>C	NCBI36
NG_008806.1:g.75394C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1186C>G	ENSP00000489512.2:n.*1186C>G
ENST00000673864.2:c.*2280C>G	ENSP00000501045.2:n.*2280C>G
ENST00000674147.2:c.2915C>G	ENSP00000500964.2:p.Ala972Gly
ENST00000242839.10:c.3536C>G MANE Select	ENSP00000242839.5:p.Ala1179Gly
ENST00000344297.9:c.2915C>G	ENSP00000342559.5:p.Ala972Gly
ENST00000400366.6:c.3203C>G	ENSP00000383217.3:p.Ala1068Gly
ENST00000448424.7:c.3284C>G	ENSP00000416738.3:p.Ala1095Gly
ENST00000673772.1:c.3302C>G	ENSP00000501168.1:p.Ala1101Gly
ENST00000673867.1:n.3675C>G
ENST00000674126.1:n.3899C>G
ENST00000674147.1:c.2471C>G	ENSP00000500964.1:p.Ala824Gly
ENST00000242839.8:c.3536C>G	ENSP00000242839.4:p.Ala1179Gly
ENST00000344297.8:c.2915C>G	ENSP00000342559.5:p.Ala972Gly
ENST00000400366.5:c.3203C>G	ENSP00000383217.3:p.Ala1068Gly
ENST00000400370.8:c.2246C>G	ENSP00000383221.3:p.Ala749Gly
ENST00000418097.7:c.3341C>G	ENSP00000393343.2:p.Ala1114Gly
ENST00000448424.6:c.3302C>G	ENSP00000416738.2:p.Ala1101Gly
ENST00000634296.1:c.1314C>G
ENST00000634308.1:c.*637C>G	ENSP00000489234.1:n.*637C>G
ENST00000634620.1:n.4280C>G
ENST00000634810.1:n.2881C>G
ENST00000634844.1:c.3392C>G	ENSP00000489398.1:p.Ala1131Gly
NM_000053.3:c.3536C>G	NP_000044.2:p.Ala1179Gly
NM_001005918.2:c.2915C>G	NP_001005918.1:p.Ala972Gly
NM_001243182.1:c.3203C>G	NP_001230111.1:p.Ala1068Gly
XM_005266423.2:c.3440C>G	XP_005266480.1:p.Ala1147Gly
XM_005266424.3:c.3440C>G	XP_005266481.1:p.Ala1147Gly
XM_005266427.2:c.3302C>G	XP_005266484.1:p.Ala1101Gly
XM_005266428.1:c.3284C>G	XP_005266485.1:p.Ala1095Gly
XM_005266430.3:c.3536C>G	XP_005266487.1:p.Ala1179Gly
XM_005266431.2:c.3500C>G	XP_005266488.1:p.Ala1167Gly
XM_005266432.2:c.3050C>G	XP_005266489.1:p.Ala1017Gly
XM_006719837.2:c.3440C>G	XP_006719900.1:p.Ala1147Gly
XM_006719838.1:c.1352C>G	XP_006719901.1:p.Ala451Gly
XM_006719839.1:c.1169C>G	XP_006719902.1:p.Ala390Gly
XM_011535117.1:c.3440C>G	XP_011533419.1:p.Ala1147Gly
XM_011535118.1:c.3401C>G	XP_011533420.1:p.Ala1134Gly
XM_011535119.1:c.3353C>G	XP_011533421.1:p.Ala1118Gly
XM_011535120.1:c.3122C>G	XP_011533422.1:p.Ala1041Gly
XM_011535121.1:c.3023C>G	XP_011533423.1:p.Ala1008Gly
XM_011535122.1:c.2204C>G	XP_011533424.1:p.Ala735Gly
XR_941601.1:n.3755C>G
XR_941602.1:n.3755C>G
XR_941603.1:n.3755C>G
XR_941604.1:n.3755C>G
NM_001330578.1:c.3302C>G	NP_001317507.1:p.Ala1101Gly
NM_001330579.1:c.3284C>G	NP_001317508.1:p.Ala1095Gly
XM_005266424.4:c.3440C>G	XP_005266481.1:p.Ala1147Gly
XM_005266430.4:c.3536C>G	XP_005266487.1:p.Ala1179Gly
XM_005266431.4:c.3500C>G	XP_005266488.1:p.Ala1167Gly
XM_006719837.3:c.3440C>G	XP_006719900.1:p.Ala1147Gly
XM_011535117.3:c.3440C>G	XP_011533419.1:p.Ala1147Gly
XM_017020627.1:c.3440C>G	XP_016876116.1:p.Ala1147Gly
NM_000053.4:c.3536C>G MANE Select	NP_000044.2:p.Ala1179Gly
NM_001005918.3:c.2915C>G	NP_001005918.1:p.Ala972Gly
NM_001330579.2:c.3284C>G	NP_001317508.1:p.Ala1095Gly
NM_001243182.2:c.3203C>G	NP_001230111.1:p.Ala1068Gly
NM_001330578.2:c.3302C>G	NP_001317507.1:p.Ala1101Gly