Canonical Allele Identifier: CA361032539

Gene: TGFBI

Linked Data

• MyVariant Identifiers: chr5:g.135382054T>G (hg19) ; chr5:g.136046365T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136046365T>G , CM000667.2:g.136046365T>G	GRCh38
NC_000005.9:g.135382054T>G , CM000667.1:g.135382054T>G	GRCh37
NC_000005.8:g.135409953T>G	NCBI36
NG_012646.1:g.22471T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.329T>G MANE Select	ENSP00000416330.2:p.Leu110Arg
ENST00000442011.6:c.329T>G	ENSP00000416330.2:p.Leu110Arg
ENST00000504185.5:n.486T>G
ENST00000506699.5:n.394T>G
ENST00000507018.5:c.246T>G
ENST00000515433.1:n.621T>G
NM_000358.2:c.329T>G	NP_000349.1:p.Leu110Arg
NM_000358.3:c.329T>G MANE Select	NP_000349.1:p.Leu110Arg