Canonical Allele Identifier: CA361039678

Gene: TGFBI

Linked Data

• MyVariant Identifiers: chr5:g.135391447G>C (hg19) ; chr5:g.136055758G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136055758G>C , CM000667.2:g.136055758G>C	GRCh38
NC_000005.9:g.135391447G>C , CM000667.1:g.135391447G>C	GRCh37
NC_000005.8:g.135419346G>C	NCBI36
NG_012646.1:g.31864G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1489G>C MANE Select	ENSP00000416330.2:p.Val497Leu
ENST00000442011.6:c.1489G>C	ENSP00000416330.2:p.Val497Leu
ENST00000506699.5:n.2006G>C
ENST00000507018.5:c.1467G>C
ENST00000509485.5:c.404G>C
ENST00000514242.5:n.260G>C
ENST00000514554.5:c.641G>C
NM_000358.2:c.1489G>C	NP_000349.1:p.Val497Leu
NM_000358.3:c.1489G>C MANE Select	NP_000349.1:p.Val497Leu