Canonical Allele Identifier: CA385532239

Gene: TSFM

Linked Data

• MyVariant Identifiers: chr12:g.58190325T>G (hg19) ; chr12:g.57796542T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57796542T>G , CM000674.2:g.57796542T>G	GRCh38
NC_000012.11:g.58190325T>G , CM000674.1:g.58190325T>G	GRCh37
NC_000012.10:g.56476592T>G	NCBI36
NG_016971.1:g.18798T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000651066.1:c.*1079T>G	ENSP00000499143.1:n.*1079T>G
ENST00000651284.1:c.*566T>G	ENSP00000499064.1:n.*566T>G
ENST00000651899.1:c.*478T>G	ENSP00000498993.1:n.*478T>G
ENST00000652027.2:c.937T>G MANE Select	ENSP00000499171.2:p.Phe313Val
ENST00000323833.12:c.1000T>G	ENSP00000313877.8:p.Phe334Val
ENST00000454289.7:c.937T>G	ENSP00000388330.2:p.Phe313Val
ENST00000540550.6:c.*345T>G	ENSP00000440987.1:n.*345T>G
ENST00000543727.5:c.571+3469T>G	ENSP00000439342.1:n.571+3469T>G
ENST00000548851.5:c.571+3469T>G	ENSP00000450041.1:n.571+3469T>G
ENST00000550559.5:c.571+3469T>G	ENSP00000448575.1:n.571+3469T>G
NM_001172695.1:c.*345T>G	NP_001166166.1:n.*345T>G
NM_001172696.1:c.1000T>G	NP_001166167.1:p.Phe334Val
NM_001172697.1:c.571+3469T>G	NP_001166168.1:n.571+3469T>G
NM_005726.5:c.937T>G	NP_005717.3:p.Phe313Val
NM_001172695.2:c.*345T>G	NP_001166166.1:n.*345T>G
NM_001172696.2:c.1000T>G	NP_001166167.1:p.Phe334Val
NM_005726.6:c.937T>G MANE Select	NP_005717.3:p.Phe313Val
NM_001172697.2:c.571+3469T>G	NP_001166168.1:n.571+3469T>G