Canonical Allele Identifier: CA361039559

Gene: TGFBI

Linked Data

• MyVariant Identifiers: chr5:g.135391420T>G (hg19) ; chr5:g.136055731T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136055731T>G , CM000667.2:g.136055731T>G	GRCh38
NC_000005.9:g.135391420T>G , CM000667.1:g.135391420T>G	GRCh37
NC_000005.8:g.135419319T>G	NCBI36
NG_012646.1:g.31837T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1462T>G MANE Select	ENSP00000416330.2:p.Tyr488Asp
ENST00000442011.6:c.1462T>G	ENSP00000416330.2:p.Tyr488Asp
ENST00000506699.5:n.1979T>G
ENST00000507018.5:c.1440T>G
ENST00000509485.5:c.377T>G
ENST00000514242.5:n.233T>G
ENST00000514554.5:c.614T>G
NM_000358.2:c.1462T>G	NP_000349.1:p.Tyr488Asp
NM_000358.3:c.1462T>G MANE Select	NP_000349.1:p.Tyr488Asp