Canonical Allele Identifier: CA446551724
Gene: TGFBI HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.135391374C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055685C>A , CM000667.2:g.136055685C>A GRCh38
NC_000005.9:g.135391374C>A , CM000667.1:g.135391374C>A GRCh37
NC_000005.8:g.135419273C>A NCBI36
NG_012646.1:g.31791C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1416C>A MANE Select ENSP00000416330.2:p.Leu472=
ENST00000442011.6:c.1416C>A ENSP00000416330.2:p.Leu472=
ENST00000506699.5:n.1933C>A
ENST00000507018.5:c.1394C>A
ENST00000509485.5:c.331C>A
ENST00000514242.5:n.187C>A
ENST00000514554.5:c.568C>A
NM_000358.2:c.1416C>A NP_000349.1:p.Leu472=
NM_000358.3:c.1416C>A MANE Select NP_000349.1:p.Leu472=
Search 100 bp 5'
Search 100 bp 3'