Canonical Allele Identifier: CA2154843

Identifiers and link-outs to other resources

ClinVar Variation Id: 334917
dbSNP Id: rs11556887

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.230212961G>A , CM000664.2:g.230212961G>A GRCh38
NC_000002.11:g.231077676G>A , CM000664.1:g.231077676G>A GRCh37
NC_000002.10:g.230785920G>A NCBI36
NG_008295.1:g.12152C>T , LRG_109:g.12152C>T
NG_051286.1:g.15038G>A

Transcript Alleles

HGVS Amino-acid change
NM_001185015.1:c.401C>T (SP110) VV NP_001171944.1:p.Ala134Val
NM_004509.3:c.383C>T (SP110) VV NP_004500.3:p.Ala128Val
NM_004510.3:c.383C>T (SP110) VV NP_004501.3:p.Ala128Val
NM_080424.2:c.383C>T , LRG_109t1:c.383C>T (SP110) NP_536349.2:p.Ala128Val
XM_005246525.2:c.401C>T (SP110) XP_005246582.1:p.Ala134Val
XM_006712487.2:c.401C>T (SP110) XP_006712550.1:p.Ala134Val
XM_006712489.2:c.401C>T (SP110) XP_006712552.1:p.Ala134Val
XM_011510517.1:c.-233-693G>A (SP140) XP_011508819.1:p.=
XM_011511088.1:c.401C>T (SP110) XP_011509390.1:p.Ala134Val
XM_011511089.1:c.383C>T (SP110) XP_011509391.1:p.Ala128Val
XM_011511090.1:c.401C>T (SP110) XP_011509392.1:p.Ala134Val
XM_011511091.1:c.401C>T (SP110) XP_011509393.1:p.Ala134Val
XM_011511092.1:c.-227C>T (SP110) XP_011509394.1:p.=
XM_005246525.4:c.401C>T (SP110)
XM_006712487.3:c.401C>T (SP110)
XM_006712489.4:c.401C>T (SP110)
XM_011510517.3:c.-233-693G>A (SP140)
XM_011511088.3:c.401C>T (SP110)
XM_011511089.3:c.383C>T (SP110)
XM_011511090.3:c.401C>T (SP110)
XM_011511091.3:c.401C>T (SP110)
XM_011511092.3:c.-227C>T (SP110)
XM_017003968.2:c.401C>T (SP110) XP_016859457.1:p.Ala134Val
XM_017003969.1:c.401C>T (SP110) XP_016859458.1:p.Ala134Val
XM_024452850.1:c.401C>T (SP110) XP_024308618.1:p.Ala134Val
XM_024452851.1:c.383C>T (SP110) XP_024308619.1:p.Ala128Val
ENST00000258381.10:c.383C>T ENSP00000258381.6:p.Ala128Val
ENST00000258382.9:c.383C>T ENSP00000258382.5:p.Ala128Val
ENST00000358662.8:c.383C>T ENSP00000351488.4:p.Ala128Val
ENST00000392048.7:c.383C>T ENSP00000375902.3:p.Ala128Val
ENST00000409815.6:c.383C>T ENSP00000387172.2:p.Ala128Val
ENST00000441657.1:n.71-693G>A
ENST00000455674.2:c.245C>T ENSP00000393992.1:p.Ala82Val
ENST00000456542.5:c.-322-693G>A ENSP00000475284.1:p.=
ENST00000462232.1:n.352C>T
ENST00000540870.4:n.401C>T ENSP00000439558.1:p.Ala134Val