Canonical Allele Identifier: CA385531014

Gene: TSFM

Linked Data

• gnomAD v4: 12-57796359-G-T
• MyVariant Identifiers: chr12:g.58190142G>T (hg19) ; chr12:g.57796359G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57796359G>T , CM000674.2:g.57796359G>T	GRCh38
NC_000012.11:g.58190142G>T , CM000674.1:g.58190142G>T	GRCh37
NC_000012.10:g.56476409G>T	NCBI36
NG_016971.1:g.18615G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651066.1:c.*896G>T	ENSP00000499143.1:n.*896G>T
ENST00000651284.1:c.*383G>T	ENSP00000499064.1:n.*383G>T
ENST00000651899.1:c.*295G>T	ENSP00000498993.1:n.*295G>T
ENST00000652027.2:c.754G>T MANE Select	ENSP00000499171.2:p.Val252Phe
ENST00000323833.12:c.817G>T	ENSP00000313877.8:p.Val273Phe
ENST00000454289.7:c.754G>T	ENSP00000388330.2:p.Val252Phe
ENST00000497617.1:n.762G>T
ENST00000540550.6:c.*162G>T	ENSP00000440987.1:n.*162G>T
ENST00000543727.5:c.571+3286G>T	ENSP00000439342.1:n.571+3286G>T
ENST00000548851.5:c.571+3286G>T	ENSP00000450041.1:n.571+3286G>T
ENST00000550559.5:c.571+3286G>T	ENSP00000448575.1:n.571+3286G>T
NM_001172695.1:c.*162G>T	NP_001166166.1:n.*162G>T
NM_001172696.1:c.817G>T	NP_001166167.1:p.Val273Phe
NM_001172697.1:c.571+3286G>T	NP_001166168.1:n.571+3286G>T
NM_005726.5:c.754G>T	NP_005717.3:p.Val252Phe
NM_001172695.2:c.*162G>T	NP_001166166.1:n.*162G>T
NM_001172696.2:c.817G>T	NP_001166167.1:p.Val273Phe
NM_005726.6:c.754G>T MANE Select	NP_005717.3:p.Val252Phe
NM_001172697.2:c.571+3286G>T	NP_001166168.1:n.571+3286G>T