Canonical Allele Identifier: CA388021174

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1163065
• ClinVar RCV Id: RCV001507823
• dbSNP Id: rs2138563688
• MyVariant Identifiers: chr13:g.52511501A>C (hg19) ; chr13:g.51937365A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937365A>C , CM000675.2:g.51937365A>C	GRCh38
NC_000013.10:g.52511501A>C , CM000675.1:g.52511501A>C	GRCh37
NC_000013.9:g.51409502A>C	NCBI36
NG_008806.1:g.79130T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1582T>G	ENSP00000489512.2:n.*1582T>G
ENST00000673864.2:c.*2676T>G	ENSP00000501045.2:n.*2676T>G
ENST00000674147.2:c.3311T>G	ENSP00000500964.2:p.Ile1104Ser
ENST00000242839.10:c.3932T>G MANE Select	ENSP00000242839.5:p.Ile1311Ser
ENST00000344297.9:c.3311T>G	ENSP00000342559.5:p.Ile1104Ser
ENST00000400366.6:c.3599T>G	ENSP00000383217.3:p.Ile1200Ser
ENST00000448424.7:c.3680T>G	ENSP00000416738.3:p.Ile1227Ser
ENST00000673696.1:n.1255T>G
ENST00000673772.1:c.3698T>G	ENSP00000501168.1:p.Ile1233Ser
ENST00000673867.1:n.4071T>G
ENST00000673923.1:n.798T>G
ENST00000674147.1:c.2867T>G	ENSP00000500964.1:p.Ile956Ser
ENST00000242839.8:c.3932T>G	ENSP00000242839.4:p.Ile1311Ser
ENST00000344297.8:c.3311T>G	ENSP00000342559.5:p.Ile1104Ser
ENST00000400366.5:c.3599T>G	ENSP00000383217.3:p.Ile1200Ser
ENST00000400370.8:c.2642T>G	ENSP00000383221.3:p.Ile881Ser
ENST00000418097.7:c.3737T>G	ENSP00000393343.2:p.Ile1246Ser
ENST00000448424.6:c.3698T>G	ENSP00000416738.2:p.Ile1233Ser
ENST00000634296.1:c.1710T>G
ENST00000634308.1:c.*1033T>G	ENSP00000489234.1:n.*1033T>G
ENST00000634620.1:n.4676T>G
ENST00000634810.1:n.3277T>G
ENST00000634844.1:c.3788T>G	ENSP00000489398.1:p.Ile1263Ser
NM_000053.3:c.3932T>G	NP_000044.2:p.Ile1311Ser
NM_001005918.2:c.3311T>G	NP_001005918.1:p.Ile1104Ser
NM_001243182.1:c.3599T>G	NP_001230111.1:p.Ile1200Ser
XM_005266423.2:c.3836T>G	XP_005266480.1:p.Ile1279Ser
XM_005266424.3:c.3836T>G	XP_005266481.1:p.Ile1279Ser
XM_005266427.2:c.3698T>G	XP_005266484.1:p.Ile1233Ser
XM_005266428.1:c.3680T>G	XP_005266485.1:p.Ile1227Ser
XM_005266430.3:c.3932T>G	XP_005266487.1:p.Ile1311Ser
XM_005266431.2:c.3896T>G	XP_005266488.1:p.Ile1299Ser
XM_005266432.2:c.3446T>G	XP_005266489.1:p.Ile1149Ser
XM_006719837.2:c.3836T>G	XP_006719900.1:p.Ile1279Ser
XM_006719838.1:c.1748T>G	XP_006719901.1:p.Ile583Ser
XM_006719839.1:c.1565T>G	XP_006719902.1:p.Ile522Ser
XM_011535117.1:c.3836T>G	XP_011533419.1:p.Ile1279Ser
XM_011535118.1:c.3797T>G	XP_011533420.1:p.Ile1266Ser
XM_011535119.1:c.3749T>G	XP_011533421.1:p.Ile1250Ser
XM_011535120.1:c.3518T>G	XP_011533422.1:p.Ile1173Ser
XM_011535121.1:c.3419T>G	XP_011533423.1:p.Ile1140Ser
XM_011535122.1:c.2600T>G	XP_011533424.1:p.Ile867Ser
XR_941601.1:n.4151T>G
XR_941602.1:n.4151T>G
XR_941603.1:n.4151T>G
XR_941604.1:n.4151T>G
NM_001330578.1:c.3698T>G	NP_001317507.1:p.Ile1233Ser
NM_001330579.1:c.3680T>G	NP_001317508.1:p.Ile1227Ser
XM_005266424.4:c.3836T>G	XP_005266481.1:p.Ile1279Ser
XM_005266430.4:c.3932T>G	XP_005266487.1:p.Ile1311Ser
XM_005266431.4:c.3896T>G	XP_005266488.1:p.Ile1299Ser
XM_006719837.3:c.3836T>G	XP_006719900.1:p.Ile1279Ser
XM_011535117.3:c.3836T>G	XP_011533419.1:p.Ile1279Ser
XM_017020627.1:c.3836T>G	XP_016876116.1:p.Ile1279Ser
NM_000053.4:c.3932T>G MANE Select	NP_000044.2:p.Ile1311Ser
NM_001005918.3:c.3311T>G	NP_001005918.1:p.Ile1104Ser
NM_001330579.2:c.3680T>G	NP_001317508.1:p.Ile1227Ser
NM_001243182.2:c.3599T>G	NP_001230111.1:p.Ile1200Ser
NM_001330578.2:c.3698T>G	NP_001317507.1:p.Ile1233Ser