Canonical Allele Identifier: CA399946789

Gene: SRSF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58007019C>A , CM000679.2:g.58007019C>A	GRCh38
NC_000017.10:g.56084380C>A , CM000679.1:g.56084380C>A	GRCh37
NC_000017.9:g.53439379C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006924.5:c.119G>T MANE Select	NP_008855.1:p.Gly40Val
ENST00000258962.5:c.119G>T MANE Select	ENSP00000258962.4:p.Gly40Val
NM_001078166.1:c.119G>T	NP_001071634.1:p.Gly40Val
NM_001078166.2:c.119G>T	NP_001071634.1:p.Gly40Val
NM_006924.4:c.119G>T	NP_008855.1:p.Gly40Val
NR_034041.1:n.328G>T
NR_034041.2:n.228G>T
ENST00000258962.4:c.119G>T	ENSP00000258962.4:p.Gly40Val
ENST00000578430.1:n.328G>T
ENST00000578794.2:c.119G>T	ENSP00000463235.2:p.Gly40Val
ENST00000581979.5:c.119G>T	ENSP00000463223.1:p.Gly40Val
ENST00000582730.6:c.119G>T	ENSP00000462215.1:p.Gly40Val
ENST00000583741.1:c.119G>T	ENSP00000463917.1:p.Gly40Val
ENST00000584773.5:c.119G>T	ENSP00000463042.1:p.Gly40Val
ENST00000585096.1:c.119G>T	ENSP00000462687.1:p.Gly40Val
XM_006722012.2:c.119G>T	XP_006722075.1:p.Gly40Val
XR_429911.2:n.255G>T
XR_429911.3:n.255G>T
XR_429912.2:n.255G>T