Canonical Allele Identifier: CA361041583

Gene: TGFBI

Linked Data

• MyVariant Identifiers: chr5:g.135392394A>C (hg19) ; chr5:g.136056705A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136056705A>C , CM000667.2:g.136056705A>C	GRCh38
NC_000005.9:g.135392394A>C , CM000667.1:g.135392394A>C	GRCh37
NC_000005.8:g.135420293A>C	NCBI36
NG_012646.1:g.32811A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1588A>C MANE Select	ENSP00000416330.2:p.Thr530Pro
ENST00000442011.6:c.1588A>C	ENSP00000416330.2:p.Thr530Pro
ENST00000506699.5:n.2105A>C
ENST00000507018.5:c.1566A>C
ENST00000509485.5:c.585A>C
ENST00000514242.5:n.359A>C
ENST00000514554.5:c.740A>C
NM_000358.2:c.1588A>C	NP_000349.1:p.Thr530Pro
NM_000358.3:c.1588A>C MANE Select	NP_000349.1:p.Thr530Pro