Canonical Allele Identifier: CA385531585

Gene: TSFM

Linked Data

• MyVariant Identifiers: chr12:g.58190224C>G (hg19) ; chr12:g.57796441C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57796441C>G , CM000674.2:g.57796441C>G	GRCh38
NC_000012.11:g.58190224C>G , CM000674.1:g.58190224C>G	GRCh37
NC_000012.10:g.56476491C>G	NCBI36
NG_016971.1:g.18697C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000651066.1:c.*978C>G	ENSP00000499143.1:n.*978C>G
ENST00000651284.1:c.*465C>G	ENSP00000499064.1:n.*465C>G
ENST00000651899.1:c.*377C>G	ENSP00000498993.1:n.*377C>G
ENST00000652027.2:c.836C>G MANE Select	ENSP00000499171.2:p.Ala279Gly
ENST00000323833.12:c.899C>G	ENSP00000313877.8:p.Ala300Gly
ENST00000454289.7:c.836C>G	ENSP00000388330.2:p.Ala279Gly
ENST00000540550.6:c.*244C>G	ENSP00000440987.1:n.*244C>G
ENST00000543727.5:c.571+3368C>G	ENSP00000439342.1:n.571+3368C>G
ENST00000548851.5:c.571+3368C>G	ENSP00000450041.1:n.571+3368C>G
ENST00000550559.5:c.571+3368C>G	ENSP00000448575.1:n.571+3368C>G
NM_001172695.1:c.*244C>G	NP_001166166.1:n.*244C>G
NM_001172696.1:c.899C>G	NP_001166167.1:p.Ala300Gly
NM_001172697.1:c.571+3368C>G	NP_001166168.1:n.571+3368C>G
NM_005726.5:c.836C>G	NP_005717.3:p.Ala279Gly
NM_001172695.2:c.*244C>G	NP_001166166.1:n.*244C>G
NM_001172696.2:c.899C>G	NP_001166167.1:p.Ala300Gly
NM_005726.6:c.836C>G MANE Select	NP_005717.3:p.Ala279Gly
NM_001172697.2:c.571+3368C>G	NP_001166168.1:n.571+3368C>G