Canonical Allele Identifier: CA446551863

Gene: TGFBI

Linked Data

• MyVariant Identifiers: chr5:g.135392432C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136056743C>T , CM000667.2:g.136056743C>T	GRCh38
NC_000005.9:g.135392432C>T , CM000667.1:g.135392432C>T	GRCh37
NC_000005.8:g.135420331C>T	NCBI36
NG_012646.1:g.32849C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000442011.7:c.1626C>T MANE Select	ENSP00000416330.2:p.Pro542=
ENST00000442011.6:c.1626C>T	ENSP00000416330.2:p.Pro542=
ENST00000506699.5:n.2143C>T
ENST00000507018.5:c.1604C>T
ENST00000509485.5:c.623C>T
ENST00000514242.5:n.397C>T
ENST00000514554.5:c.778C>T
NM_000358.2:c.1626C>T	NP_000349.1:p.Pro542=
NM_000358.3:c.1626C>T MANE Select	NP_000349.1:p.Pro542=