Canonical Allele Identifier: CA361039499

Gene: TGFBI

Linked Data

• MyVariant Identifiers: chr5:g.135391409A>G (hg19) ; chr5:g.136055720A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136055720A>G , CM000667.2:g.136055720A>G	GRCh38
NC_000005.9:g.135391409A>G , CM000667.1:g.135391409A>G	GRCh37
NC_000005.8:g.135419308A>G	NCBI36
NG_012646.1:g.31826A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1451A>G MANE Select	ENSP00000416330.2:p.Lys484Arg
ENST00000442011.6:c.1451A>G	ENSP00000416330.2:p.Lys484Arg
ENST00000506699.5:n.1968A>G
ENST00000507018.5:c.1429A>G
ENST00000509485.5:c.366A>G
ENST00000514242.5:n.222A>G
ENST00000514554.5:c.603A>G
NM_000358.2:c.1451A>G	NP_000349.1:p.Lys484Arg
NM_000358.3:c.1451A>G MANE Select	NP_000349.1:p.Lys484Arg