Canonical Allele Identifier: CA361032553

Gene: TGFBI

Linked Data

• MyVariant Identifiers: chr5:g.135382060T>G (hg19) ; chr5:g.136046371T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136046371T>G , CM000667.2:g.136046371T>G	GRCh38
NC_000005.9:g.135382060T>G , CM000667.1:g.135382060T>G	GRCh37
NC_000005.8:g.135409959T>G	NCBI36
NG_012646.1:g.22477T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.335T>G MANE Select	ENSP00000416330.2:p.Val112Gly
ENST00000442011.6:c.335T>G	ENSP00000416330.2:p.Val112Gly
ENST00000504185.5:n.492T>G
ENST00000506699.5:n.400T>G
ENST00000507018.5:c.252T>G
ENST00000515433.1:n.627T>G
NM_000358.2:c.335T>G	NP_000349.1:p.Val112Gly
NM_000358.3:c.335T>G MANE Select	NP_000349.1:p.Val112Gly