Canonical Allele Identifier: CA2682350

Linked Data

ClinVar Variation Id: 2205180
ClinVar RCV Id: RCV002648298
dbSNP Id: rs766455806

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.158646926C>T , CM000665.2:g.158646926C>T GRCh38
NC_000003.11:g.158364715C>T , CM000665.1:g.158364715C>T GRCh37
NC_000003.10:g.159847409C>T NCBI36
NG_008441.1:g.7399C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000486715.6:c.551C>T (GFM1) MANE Select ENSP00000419038.1:p.Ala184Val
ENST00000264263.9:c.551C>T (GFM1) ENSP00000264263.5:p.Ala184Val
ENST00000478251.1:n.39C>T (GFM1)
ENST00000478254.5:c.551C>T (GFM1) ENSP00000417225.1:p.Ala184Val
ENST00000478576.5:c.551C>T (GFM1) ENSP00000418755.1:p.Ala184Val
ENST00000482640.5:c.362-717G>A (LXN)
ENST00000486715.5:c.551C>T (GFM1) ENSP00000419038.1:p.Ala184Val
NM_001308164.1:c.551C>T (GFM1) NP_001295093.1:p.Ala184Val
NM_001308166.1:c.551C>T (GFM1) NP_001295095.1:p.Ala184Val
NM_024996.5:c.551C>T (GFM1) NP_079272.4:p.Ala184Val
XM_006713795.1:c.551C>T (GFM1) XP_006713858.1:p.Ala184Val
XM_006713795.2:c.551C>T (GFM1) XP_006713858.1:p.Ala184Val
NM_001374355.1:c.551C>T (GFM1) NP_001361284.1:p.Ala184Val
NM_001374356.1:c.551C>T (GFM1) NP_001361285.1:p.Ala184Val
NM_001374357.1:c.326C>T (GFM1) NP_001361286.1:p.Ala109Val
NM_001374358.1:c.234+1145C>T (GFM1) NP_001361287.1:n.234+1145C>T
NM_001374359.1:c.5+1145C>T (GFM1) NP_001361288.1:n.5+1145C>T
NM_001374360.1:c.5+1145C>T (GFM1) NP_001361289.1:n.5+1145C>T
NM_001374361.1:c.5+1145C>T (GFM1) NP_001361290.1:n.5+1145C>T
NM_024996.7:c.551C>T (GFM1) MANE Select NP_079272.4:p.Ala184Val
NR_164499.1:n.659C>T (GFM1)
NR_164500.1:n.659C>T (GFM1)
NR_164501.1:n.342+1145C>T (GFM1)
NR_164502.1:n.659C>T (GFM1)
NM_001308164.2:c.551C>T (GFM1) NP_001295093.1:p.Ala184Val
NM_001308166.2:c.551C>T (GFM1) NP_001295095.1:p.Ala184Val