Canonical Allele Identifier: CA361041853

Gene: TGFBI

Linked Data

• MyVariant Identifiers: chr5:g.135392437A>T (hg19) ; chr5:g.136056748A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136056748A>T , CM000667.2:g.136056748A>T	GRCh38
NC_000005.9:g.135392437A>T , CM000667.1:g.135392437A>T	GRCh37
NC_000005.8:g.135420336A>T	NCBI36
NG_012646.1:g.32854A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000442011.7:c.1631A>T MANE Select	ENSP00000416330.2:p.Asn544Ile
ENST00000442011.6:c.1631A>T	ENSP00000416330.2:p.Asn544Ile
ENST00000506699.5:n.2148A>T
ENST00000507018.5:c.1609A>T
ENST00000509485.5:c.628A>T
ENST00000514242.5:n.402A>T
ENST00000514554.5:c.783A>T
NM_000358.2:c.1631A>T	NP_000349.1:p.Asn544Ile
NM_000358.3:c.1631A>T MANE Select	NP_000349.1:p.Asn544Ile