Canonical Allele Identifier: CA388021172

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511500A>C (hg19) ; chr13:g.51937364A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937364A>C , CM000675.2:g.51937364A>C	GRCh38
NC_000013.10:g.52511500A>C , CM000675.1:g.52511500A>C	GRCh37
NC_000013.9:g.51409501A>C	NCBI36
NG_008806.1:g.79131T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1583T>G	ENSP00000489512.2:n.*1583T>G
ENST00000673864.2:c.*2677T>G	ENSP00000501045.2:n.*2677T>G
ENST00000674147.2:c.3312T>G	ENSP00000500964.2:p.Ile1104Met
ENST00000242839.10:c.3933T>G MANE Select	ENSP00000242839.5:p.Ile1311Met
ENST00000344297.9:c.3312T>G	ENSP00000342559.5:p.Ile1104Met
ENST00000400366.6:c.3600T>G	ENSP00000383217.3:p.Ile1200Met
ENST00000448424.7:c.3681T>G	ENSP00000416738.3:p.Ile1227Met
ENST00000673696.1:n.1256T>G
ENST00000673772.1:c.3699T>G	ENSP00000501168.1:p.Ile1233Met
ENST00000673867.1:n.4072T>G
ENST00000673923.1:n.799T>G
ENST00000674147.1:c.2868T>G	ENSP00000500964.1:p.Ile956Met
ENST00000242839.8:c.3933T>G	ENSP00000242839.4:p.Ile1311Met
ENST00000344297.8:c.3312T>G	ENSP00000342559.5:p.Ile1104Met
ENST00000400366.5:c.3600T>G	ENSP00000383217.3:p.Ile1200Met
ENST00000400370.8:c.2643T>G	ENSP00000383221.3:p.Ile881Met
ENST00000418097.7:c.3738T>G	ENSP00000393343.2:p.Ile1246Met
ENST00000448424.6:c.3699T>G	ENSP00000416738.2:p.Ile1233Met
ENST00000634296.1:c.1711T>G
ENST00000634308.1:c.*1034T>G	ENSP00000489234.1:n.*1034T>G
ENST00000634620.1:n.4677T>G
ENST00000634810.1:n.3278T>G
ENST00000634844.1:c.3789T>G	ENSP00000489398.1:p.Ile1263Met
NM_000053.3:c.3933T>G	NP_000044.2:p.Ile1311Met
NM_001005918.2:c.3312T>G	NP_001005918.1:p.Ile1104Met
NM_001243182.1:c.3600T>G	NP_001230111.1:p.Ile1200Met
XM_005266423.2:c.3837T>G	XP_005266480.1:p.Ile1279Met
XM_005266424.3:c.3837T>G	XP_005266481.1:p.Ile1279Met
XM_005266427.2:c.3699T>G	XP_005266484.1:p.Ile1233Met
XM_005266428.1:c.3681T>G	XP_005266485.1:p.Ile1227Met
XM_005266430.3:c.3933T>G	XP_005266487.1:p.Ile1311Met
XM_005266431.2:c.3897T>G	XP_005266488.1:p.Ile1299Met
XM_005266432.2:c.3447T>G	XP_005266489.1:p.Ile1149Met
XM_006719837.2:c.3837T>G	XP_006719900.1:p.Ile1279Met
XM_006719838.1:c.1749T>G	XP_006719901.1:p.Ile583Met
XM_006719839.1:c.1566T>G	XP_006719902.1:p.Ile522Met
XM_011535117.1:c.3837T>G	XP_011533419.1:p.Ile1279Met
XM_011535118.1:c.3798T>G	XP_011533420.1:p.Ile1266Met
XM_011535119.1:c.3750T>G	XP_011533421.1:p.Ile1250Met
XM_011535120.1:c.3519T>G	XP_011533422.1:p.Ile1173Met
XM_011535121.1:c.3420T>G	XP_011533423.1:p.Ile1140Met
XM_011535122.1:c.2601T>G	XP_011533424.1:p.Ile867Met
XR_941601.1:n.4152T>G
XR_941602.1:n.4152T>G
XR_941603.1:n.4152T>G
XR_941604.1:n.4152T>G
NM_001330578.1:c.3699T>G	NP_001317507.1:p.Ile1233Met
NM_001330579.1:c.3681T>G	NP_001317508.1:p.Ile1227Met
XM_005266424.4:c.3837T>G	XP_005266481.1:p.Ile1279Met
XM_005266430.4:c.3933T>G	XP_005266487.1:p.Ile1311Met
XM_005266431.4:c.3897T>G	XP_005266488.1:p.Ile1299Met
XM_006719837.3:c.3837T>G	XP_006719900.1:p.Ile1279Met
XM_011535117.3:c.3837T>G	XP_011533419.1:p.Ile1279Met
XM_017020627.1:c.3837T>G	XP_016876116.1:p.Ile1279Met
NM_000053.4:c.3933T>G MANE Select	NP_000044.2:p.Ile1311Met
NM_001005918.3:c.3312T>G	NP_001005918.1:p.Ile1104Met
NM_001330579.2:c.3681T>G	NP_001317508.1:p.Ile1227Met
NM_001243182.2:c.3600T>G	NP_001230111.1:p.Ile1200Met
NM_001330578.2:c.3699T>G	NP_001317507.1:p.Ile1233Met