Canonical Allele Identifier: CA1584797171
Gene: TGFBI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055774T= , CM000667.2:g.136055774T= GRCh38
NC_000005.9:g.135391463T= , CM000667.1:g.135391463T= GRCh37
NC_000005.8:g.135419362T= NCBI36
NG_012646.1:g.31880T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1505T= MANE Select ENSP00000416330.2:p.Met502=
ENST00000442011.6:c.1505T= ENSP00000416330.2:p.Met502=
ENST00000506699.5:n.2022T=
ENST00000507018.5:c.1483T=
ENST00000509485.5:c.420T=
ENST00000514242.5:n.276T=
ENST00000514554.5:c.657T=
NM_000358.2:c.1505T= NP_000349.1:p.Met502=
NM_000358.3:c.1505T= MANE Select NP_000349.1:p.Met502=