Canonical Allele Identifier: CA385531676

Gene: TSFM

Linked Data

• MyVariant Identifiers: chr12:g.58190236T>A (hg19) ; chr12:g.57796453T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57796453T>A , CM000674.2:g.57796453T>A	GRCh38
NC_000012.11:g.58190236T>A , CM000674.1:g.58190236T>A	GRCh37
NC_000012.10:g.56476503T>A	NCBI36
NG_016971.1:g.18709T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000651066.1:c.*990T>A	ENSP00000499143.1:n.*990T>A
ENST00000651284.1:c.*477T>A	ENSP00000499064.1:n.*477T>A
ENST00000651899.1:c.*389T>A	ENSP00000498993.1:n.*389T>A
ENST00000652027.2:c.848T>A MANE Select	ENSP00000499171.2:p.Met283Lys
ENST00000323833.12:c.911T>A	ENSP00000313877.8:p.Met304Lys
ENST00000454289.7:c.848T>A	ENSP00000388330.2:p.Met283Lys
ENST00000540550.6:c.*256T>A	ENSP00000440987.1:n.*256T>A
ENST00000543727.5:c.571+3380T>A	ENSP00000439342.1:n.571+3380T>A
ENST00000548851.5:c.571+3380T>A	ENSP00000450041.1:n.571+3380T>A
ENST00000550559.5:c.571+3380T>A	ENSP00000448575.1:n.571+3380T>A
NM_001172695.1:c.*256T>A	NP_001166166.1:n.*256T>A
NM_001172696.1:c.911T>A	NP_001166167.1:p.Met304Lys
NM_001172697.1:c.571+3380T>A	NP_001166168.1:n.571+3380T>A
NM_005726.5:c.848T>A	NP_005717.3:p.Met283Lys
NM_001172695.2:c.*256T>A	NP_001166166.1:n.*256T>A
NM_001172696.2:c.911T>A	NP_001166167.1:p.Met304Lys
NM_005726.6:c.848T>A MANE Select	NP_005717.3:p.Met283Lys
NM_001172697.2:c.571+3380T>A	NP_001166168.1:n.571+3380T>A