Canonical Allele Identifier: CA361039584

Gene: TGFBI

Linked Data

• MyVariant Identifiers: chr5:g.135391424G>T (hg19) ; chr5:g.136055735G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136055735G>T , CM000667.2:g.136055735G>T	GRCh38
NC_000005.9:g.135391424G>T , CM000667.1:g.135391424G>T	GRCh37
NC_000005.8:g.135419323G>T	NCBI36
NG_012646.1:g.31841G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1466G>T MANE Select	ENSP00000416330.2:p.Gly489Val
ENST00000442011.6:c.1466G>T	ENSP00000416330.2:p.Gly489Val
ENST00000506699.5:n.1983G>T
ENST00000507018.5:c.1444G>T
ENST00000509485.5:c.381G>T
ENST00000514242.5:n.237G>T
ENST00000514554.5:c.618G>T
NM_000358.2:c.1466G>T	NP_000349.1:p.Gly489Val
NM_000358.3:c.1466G>T MANE Select	NP_000349.1:p.Gly489Val