Canonical Allele Identifier: CA446551838

Gene: TGFBI

Linked Data

• MyVariant Identifiers: chr5:g.135392399C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136056710C>G , CM000667.2:g.136056710C>G	GRCh38
NC_000005.9:g.135392399C>G , CM000667.1:g.135392399C>G	GRCh37
NC_000005.8:g.135420298C>G	NCBI36
NG_012646.1:g.32816C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1593C>G MANE Select	ENSP00000416330.2:p.Leu531=
ENST00000442011.6:c.1593C>G	ENSP00000416330.2:p.Leu531=
ENST00000506699.5:n.2110C>G
ENST00000507018.5:c.1571C>G
ENST00000509485.5:c.590C>G
ENST00000514242.5:n.364C>G
ENST00000514554.5:c.745C>G
NM_000358.2:c.1593C>G	NP_000349.1:p.Leu531=
NM_000358.3:c.1593C>G MANE Select	NP_000349.1:p.Leu531=