Canonical Allele Identifier: CA446551890

Gene: TGFBI

Linked Data

• MyVariant Identifiers: chr5:g.135392469C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136056780C>A , CM000667.2:g.136056780C>A	GRCh38
NC_000005.9:g.135392469C>A , CM000667.1:g.135392469C>A	GRCh37
NC_000005.8:g.135420368C>A	NCBI36
NG_012646.1:g.32886C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1663C>A MANE Select	ENSP00000416330.2:p.Arg555=
ENST00000442011.6:c.1663C>A	ENSP00000416330.2:p.Arg555=
ENST00000506699.5:n.2180C>A
ENST00000507018.5:c.1641C>A
ENST00000509485.5:c.660C>A
ENST00000514242.5:n.434C>A
ENST00000514554.5:c.815C>A
NM_000358.2:c.1663C>A	NP_000349.1:p.Arg555=
NM_000358.3:c.1663C>A MANE Select	NP_000349.1:p.Arg555=