Canonical Allele Identifier: CA351915
Community Standard Title: NM_005726.6(TSFM):c.2T>G (p.Met1Arg)
Gene: TSFM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57782803T>G , CM000674.2:g.57782803T>G GRCh38
NC_000012.11:g.58176586T>G , CM000674.1:g.58176586T>G GRCh37
NC_000012.10:g.56462853T>G NCBI36
NG_016971.1:g.5059T>G

Transcript Alleles

HGVS Amino-acid Change
NM_005726.6:c.2T>G MANE Select NP_005717.3:p.Met1Arg
ENST00000652027.2:c.2T>G MANE Select ENSP00000499171.2:p.Met1Arg
NM_001172695.1:c.2T>G NP_001166166.1:p.Met1Arg
NM_001172695.2:c.2T>G NP_001166166.1:p.Met1Arg
NM_001172696.1:c.2T>G NP_001166167.1:p.Met1Arg
NM_001172696.2:c.2T>G NP_001166167.1:p.Met1Arg
NM_001172697.1:c.2T>G NP_001166168.1:p.Met1Arg
NM_001172697.2:c.2T>G NP_001166168.1:p.Met1Arg
NM_005726.5:c.2T>G NP_005717.3:p.Met1Arg
ENST00000323833.12:c.2T>G ENSP00000313877.8:p.Met1Arg
ENST00000417094.5:c.2T>G ENSP00000406339.1:p.Met1Arg
ENST00000434359.5:c.-168T>G ENSP00000390679.1:n.-168T>G
ENST00000454289.7:c.2T>G ENSP00000388330.2:p.Met1Arg
ENST00000471530.5:c.102-307T>G
ENST00000540550.6:c.2T>G ENSP00000440987.1:p.Met1Arg
ENST00000543727.5:c.2T>G ENSP00000439342.1:p.Met1Arg
ENST00000546504.1:c.77-307T>G ENSP00000449544.1:n.77-307T>G
ENST00000548851.5:c.2T>G ENSP00000450041.1:p.Met1Arg
ENST00000550559.5:c.2T>G ENSP00000448575.1:p.Met1Arg
ENST00000553083.1:n.78-307T>G
ENST00000651066.1:c.2T>G ENSP00000499143.1:p.Met1Arg
ENST00000651284.1:c.290-307T>G ENSP00000499064.1:n.290-307T>G
ENST00000651899.1:c.2T>G ENSP00000498993.1:p.Met1Arg