Canonical Allele Identifier: CA355175789

Gene: GFM1 LXN

Linked Data

• ClinVar Variation Id: 522768
• ClinVar RCV Id: RCV000625929
• dbSNP Id: rs1553847587
• MyVariant Identifiers: chr3:g.158364559A>C (hg19) ; chr3:g.158646770A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158646770A>C , CM000665.2:g.158646770A>C	GRCh38
NC_000003.11:g.158364559A>C , CM000665.1:g.158364559A>C	GRCh37
NC_000003.10:g.159847253A>C	NCBI36
NG_008441.1:g.7243A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486715.6:c.395A>C (GFM1) MANE Select	ENSP00000419038.1:p.Glu132Ala
ENST00000264263.9:c.395A>C (GFM1)	ENSP00000264263.5:p.Glu132Ala
ENST00000464732.1:c.170A>C (GFM1)	ENSP00000417532.1:p.Glu57Ala
ENST00000478254.5:c.395A>C (GFM1)	ENSP00000417225.1:p.Glu132Ala
ENST00000478576.5:c.395A>C (GFM1)	ENSP00000418755.1:p.Glu132Ala
ENST00000482640.5:c.362-561T>G (LXN)
ENST00000486715.5:c.395A>C (GFM1)	ENSP00000419038.1:p.Glu132Ala
NM_001308164.1:c.395A>C (GFM1)	NP_001295093.1:p.Glu132Ala
NM_001308166.1:c.395A>C (GFM1)	NP_001295095.1:p.Glu132Ala
NM_024996.5:c.395A>C (GFM1)	NP_079272.4:p.Glu132Ala
XM_006713795.1:c.395A>C (GFM1)	XP_006713858.1:p.Glu132Ala
XM_006713795.2:c.395A>C (GFM1)	XP_006713858.1:p.Glu132Ala
NM_001374355.1:c.395A>C (GFM1)	NP_001361284.1:p.Glu132Ala
NM_001374356.1:c.395A>C (GFM1)	NP_001361285.1:p.Glu132Ala
NM_001374357.1:c.170A>C (GFM1)	NP_001361286.1:p.Glu57Ala
NM_001374358.1:c.234+989A>C (GFM1)	NP_001361287.1:n.234+989A>C
NM_001374359.1:c.5+989A>C (GFM1)	NP_001361288.1:n.5+989A>C
NM_001374360.1:c.5+989A>C (GFM1)	NP_001361289.1:n.5+989A>C
NM_001374361.1:c.5+989A>C (GFM1)	NP_001361290.1:n.5+989A>C
NM_024996.7:c.395A>C (GFM1) MANE Select	NP_079272.4:p.Glu132Ala
NR_164499.1:n.503A>C (GFM1)
NR_164500.1:n.503A>C (GFM1)
NR_164501.1:n.342+989A>C (GFM1)
NR_164502.1:n.503A>C (GFM1)
NM_001308164.2:c.395A>C (GFM1)	NP_001295093.1:p.Glu132Ala
NM_001308166.2:c.395A>C (GFM1)	NP_001295095.1:p.Glu132Ala