Canonical Allele Identifier: CA361039887

Gene: TGFBI

Linked Data

• MyVariant Identifiers: chr5:g.135391474A>C (hg19) ; chr5:g.136055785A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136055785A>C , CM000667.2:g.136055785A>C	GRCh38
NC_000005.9:g.135391474A>C , CM000667.1:g.135391474A>C	GRCh37
NC_000005.8:g.135419373A>C	NCBI36
NG_012646.1:g.31891A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1516A>C MANE Select	ENSP00000416330.2:p.Met506Leu
ENST00000442011.6:c.1516A>C	ENSP00000416330.2:p.Met506Leu
ENST00000506699.5:n.2033A>C
ENST00000507018.5:c.1494A>C
ENST00000509485.5:c.431A>C
ENST00000514242.5:n.287A>C
ENST00000514554.5:c.668A>C
NM_000358.2:c.1516A>C	NP_000349.1:p.Met506Leu
NM_000358.3:c.1516A>C MANE Select	NP_000349.1:p.Met506Leu