Canonical Allele Identifier: CA385532253

Gene: TSFM

Linked Data

• MyVariant Identifiers: chr12:g.58190328G>A (hg19) ; chr12:g.57796545G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57796545G>A , CM000674.2:g.57796545G>A	GRCh38
NC_000012.11:g.58190328G>A , CM000674.1:g.58190328G>A	GRCh37
NC_000012.10:g.56476595G>A	NCBI36
NG_016971.1:g.18801G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000651066.1:c.*1082G>A	ENSP00000499143.1:n.*1082G>A
ENST00000651284.1:c.*569G>A	ENSP00000499064.1:n.*569G>A
ENST00000651899.1:c.*481G>A	ENSP00000498993.1:n.*481G>A
ENST00000652027.2:c.940G>A MANE Select	ENSP00000499171.2:p.Glu314Lys
ENST00000323833.12:c.1003G>A	ENSP00000313877.8:p.Glu335Lys
ENST00000454289.7:c.940G>A	ENSP00000388330.2:p.Glu314Lys
ENST00000540550.6:c.*348G>A	ENSP00000440987.1:n.*348G>A
ENST00000543727.5:c.571+3472G>A	ENSP00000439342.1:n.571+3472G>A
ENST00000548851.5:c.571+3472G>A	ENSP00000450041.1:n.571+3472G>A
ENST00000550559.5:c.571+3472G>A	ENSP00000448575.1:n.571+3472G>A
NM_001172695.1:c.*348G>A	NP_001166166.1:n.*348G>A
NM_001172696.1:c.1003G>A	NP_001166167.1:p.Glu335Lys
NM_001172697.1:c.571+3472G>A	NP_001166168.1:n.571+3472G>A
NM_005726.5:c.940G>A	NP_005717.3:p.Glu314Lys
NM_001172695.2:c.*348G>A	NP_001166166.1:n.*348G>A
NM_001172696.2:c.1003G>A	NP_001166167.1:p.Glu335Lys
NM_005726.6:c.940G>A MANE Select	NP_005717.3:p.Glu314Lys
NM_001172697.2:c.571+3472G>A	NP_001166168.1:n.571+3472G>A