Canonical Allele Identifier: CA446550995

Gene: TGFBI

Linked Data

• MyVariant Identifiers: chr5:g.135382043T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136046354T>C , CM000667.2:g.136046354T>C	GRCh38
NC_000005.9:g.135382043T>C , CM000667.1:g.135382043T>C	GRCh37
NC_000005.8:g.135409942T>C	NCBI36
NG_012646.1:g.22460T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.318T>C MANE Select	ENSP00000416330.2:p.Leu106=
ENST00000442011.6:c.318T>C	ENSP00000416330.2:p.Leu106=
ENST00000504185.5:n.475T>C
ENST00000506699.5:n.383T>C
ENST00000507018.5:c.235T>C
ENST00000515433.1:n.610T>C
NM_000358.2:c.318T>C	NP_000349.1:p.Leu106=
NM_000358.3:c.318T>C MANE Select	NP_000349.1:p.Leu106=