Canonical Allele Identifier: CA446551866

Gene: TGFBI

Linked Data

• MyVariant Identifiers: chr5:g.135392435A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136056746A>T , CM000667.2:g.136056746A>T	GRCh38
NC_000005.9:g.135392435A>T , CM000667.1:g.135392435A>T	GRCh37
NC_000005.8:g.135420334A>T	NCBI36
NG_012646.1:g.32852A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000442011.7:c.1629A>T MANE Select	ENSP00000416330.2:p.Thr543=
ENST00000442011.6:c.1629A>T	ENSP00000416330.2:p.Thr543=
ENST00000506699.5:n.2146A>T
ENST00000507018.5:c.1607A>T
ENST00000509485.5:c.626A>T
ENST00000514242.5:n.400A>T
ENST00000514554.5:c.781A>T
NM_000358.2:c.1629A>T	NP_000349.1:p.Thr543=
NM_000358.3:c.1629A>T MANE Select	NP_000349.1:p.Thr543=