Canonical Allele Identifier: CA385523508

Gene: TSFM

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57783168G>T , CM000674.2:g.57783168G>T	GRCh38
NC_000012.11:g.58176951G>T , CM000674.1:g.58176951G>T	GRCh37
NC_000012.10:g.56463218G>T	NCBI36
NG_016971.1:g.5424G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005726.6:c.116G>T MANE Select	NP_005717.3:p.Arg39Leu
ENST00000652027.2:c.116G>T MANE Select	ENSP00000499171.2:p.Arg39Leu
NM_001172695.1:c.116G>T	NP_001166166.1:p.Arg39Leu
NM_001172695.2:c.116G>T	NP_001166166.1:p.Arg39Leu
NM_001172696.1:c.116G>T	NP_001166167.1:p.Arg39Leu
NM_001172696.2:c.116G>T	NP_001166167.1:p.Arg39Leu
NM_001172697.1:c.116G>T	NP_001166168.1:p.Arg39Leu
NM_001172697.2:c.116G>T	NP_001166168.1:p.Arg39Leu
NM_005726.5:c.116G>T	NP_005717.3:p.Arg39Leu
ENST00000323833.12:c.116G>T	ENSP00000313877.8:p.Arg39Leu
ENST00000417094.5:c.116G>T	ENSP00000406339.1:p.Arg39Leu
ENST00000434359.5:c.-35G>T	ENSP00000390679.1:n.-35G>T
ENST00000454289.7:c.116G>T	ENSP00000388330.2:p.Arg39Leu
ENST00000457189.1:c.-35G>T	ENSP00000389162.1:n.-35G>T
ENST00000471530.5:c.160G>T
ENST00000497617.1:n.86G>T
ENST00000540550.6:c.116G>T	ENSP00000440987.1:p.Arg39Leu
ENST00000543727.5:c.116G>T	ENSP00000439342.1:p.Arg39Leu
ENST00000546504.1:c.135G>T	ENSP00000449544.1:p.Pro45=
ENST00000548851.5:c.116G>T	ENSP00000450041.1:p.Arg39Leu
ENST00000550559.5:c.116G>T	ENSP00000448575.1:p.Arg39Leu
ENST00000553083.1:n.136G>T
ENST00000651066.1:c.116G>T	ENSP00000499143.1:p.Arg39Leu
ENST00000651284.1:c.348G>T	ENSP00000499064.1:p.Pro116=
ENST00000651899.1:c.135G>T	ENSP00000498993.1:p.Pro45=