Canonical Allele Identifier: CA128058980

Gene: TGFBI

Linked Data

• dbSNP Id: rs769946729
• gnomAD v4: 5-136056666-A-C
• MyVariant Identifiers: chr5:g.135392355A>C (hg19) ; chr5:g.136056666A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136056666A>C , CM000667.2:g.136056666A>C	GRCh38
NC_000005.9:g.135392355A>C , CM000667.1:g.135392355A>C	GRCh37
NC_000005.8:g.135420254A>C	NCBI36
NG_012646.1:g.32772A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1549A>C MANE Select	ENSP00000416330.2:p.Met517Leu
ENST00000442011.6:c.1549A>C	ENSP00000416330.2:p.Met517Leu
ENST00000506699.5:n.2066A>C
ENST00000507018.5:c.1527A>C
ENST00000509485.5:c.546A>C
ENST00000514242.5:n.320A>C
ENST00000514554.5:c.701A>C
NM_000358.2:c.1549A>C	NP_000349.1:p.Met517Leu
NM_000358.3:c.1549A>C MANE Select	NP_000349.1:p.Met517Leu