Canonical Allele Identifier: CA388020786

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511420A>C (hg19) ; chr13:g.51937284A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937284A>C , CM000675.2:g.51937284A>C	GRCh38
NC_000013.10:g.52511420A>C , CM000675.1:g.52511420A>C	GRCh37
NC_000013.9:g.51409421A>C	NCBI36
NG_008806.1:g.79211T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1663T>G	ENSP00000489512.2:n.*1663T>G
ENST00000673864.2:c.*2757T>G	ENSP00000501045.2:n.*2757T>G
ENST00000674147.2:c.3392T>G	ENSP00000500964.2:p.Ile1131Ser
ENST00000242839.10:c.4013T>G MANE Select	ENSP00000242839.5:p.Ile1338Ser
ENST00000344297.9:c.3392T>G	ENSP00000342559.5:p.Ile1131Ser
ENST00000400366.6:c.3680T>G	ENSP00000383217.3:p.Ile1227Ser
ENST00000448424.7:c.3761T>G	ENSP00000416738.3:p.Ile1254Ser
ENST00000673696.1:n.1336T>G
ENST00000673772.1:c.3779T>G	ENSP00000501168.1:p.Ile1260Ser
ENST00000673867.1:n.4152T>G
ENST00000673923.1:n.879T>G
ENST00000674147.1:c.2948T>G	ENSP00000500964.1:p.Ile983Ser
ENST00000242839.8:c.4013T>G	ENSP00000242839.4:p.Ile1338Ser
ENST00000344297.8:c.3392T>G	ENSP00000342559.5:p.Ile1131Ser
ENST00000400366.5:c.3680T>G	ENSP00000383217.3:p.Ile1227Ser
ENST00000400370.8:c.2723T>G	ENSP00000383221.3:p.Ile908Ser
ENST00000418097.7:c.3818T>G	ENSP00000393343.2:p.Ile1273Ser
ENST00000448424.6:c.3779T>G	ENSP00000416738.2:p.Ile1260Ser
ENST00000634296.1:c.1791T>G
ENST00000634308.1:c.*1114T>G	ENSP00000489234.1:n.*1114T>G
ENST00000634620.1:n.4757T>G
ENST00000634810.1:n.3358T>G
ENST00000634844.1:c.3869T>G	ENSP00000489398.1:p.Ile1290Ser
NM_000053.3:c.4013T>G	NP_000044.2:p.Ile1338Ser
NM_001005918.2:c.3392T>G	NP_001005918.1:p.Ile1131Ser
NM_001243182.1:c.3680T>G	NP_001230111.1:p.Ile1227Ser
XM_005266423.2:c.3917T>G	XP_005266480.1:p.Ile1306Ser
XM_005266424.3:c.3917T>G	XP_005266481.1:p.Ile1306Ser
XM_005266427.2:c.3779T>G	XP_005266484.1:p.Ile1260Ser
XM_005266428.1:c.3761T>G	XP_005266485.1:p.Ile1254Ser
XM_005266430.3:c.4013T>G	XP_005266487.1:p.Ile1338Ser
XM_005266431.2:c.3977T>G	XP_005266488.1:p.Ile1326Ser
XM_005266432.2:c.3527T>G	XP_005266489.1:p.Ile1176Ser
XM_006719837.2:c.3917T>G	XP_006719900.1:p.Ile1306Ser
XM_006719838.1:c.1829T>G	XP_006719901.1:p.Ile610Ser
XM_006719839.1:c.1646T>G	XP_006719902.1:p.Ile549Ser
XM_011535117.1:c.3917T>G	XP_011533419.1:p.Ile1306Ser
XM_011535118.1:c.3878T>G	XP_011533420.1:p.Ile1293Ser
XM_011535119.1:c.3830T>G	XP_011533421.1:p.Ile1277Ser
XM_011535120.1:c.3599T>G	XP_011533422.1:p.Ile1200Ser
XM_011535121.1:c.3500T>G	XP_011533423.1:p.Ile1167Ser
XM_011535122.1:c.2681T>G	XP_011533424.1:p.Ile894Ser
XR_941601.1:n.4232T>G
XR_941602.1:n.4232T>G
XR_941603.1:n.4232T>G
XR_941604.1:n.4232T>G
NM_001330578.1:c.3779T>G	NP_001317507.1:p.Ile1260Ser
NM_001330579.1:c.3761T>G	NP_001317508.1:p.Ile1254Ser
XM_005266424.4:c.3917T>G	XP_005266481.1:p.Ile1306Ser
XM_005266430.4:c.4013T>G	XP_005266487.1:p.Ile1338Ser
XM_005266431.4:c.3977T>G	XP_005266488.1:p.Ile1326Ser
XM_006719837.3:c.3917T>G	XP_006719900.1:p.Ile1306Ser
XM_011535117.3:c.3917T>G	XP_011533419.1:p.Ile1306Ser
XM_017020627.1:c.3917T>G	XP_016876116.1:p.Ile1306Ser
NM_000053.4:c.4013T>G MANE Select	NP_000044.2:p.Ile1338Ser
NM_001005918.3:c.3392T>G	NP_001005918.1:p.Ile1131Ser
NM_001330579.2:c.3761T>G	NP_001317508.1:p.Ile1254Ser
NM_001243182.2:c.3680T>G	NP_001230111.1:p.Ile1227Ser
NM_001330578.2:c.3779T>G	NP_001317507.1:p.Ile1260Ser