Canonical Allele Identifier: CA392327696

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48717595A>G (hg19) ; chr15:g.48425398A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425398A>G , CM000677.2:g.48425398A>G	GRCh38
NC_000015.9:g.48717595A>G , CM000677.1:g.48717595A>G	GRCh37
NC_000015.8:g.46504887A>G	NCBI36
NG_008805.2:g.225391T>C , LRG_778:g.225391T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*232T>C	ENSP00000453958.2:n.*232T>C
ENST00000674301.2:c.*937T>C	ENSP00000501333.2:n.*937T>C
ENST00000682170.1:n.1605T>C
ENST00000682767.1:n.721T>C
ENST00000316623.10:c.7424T>C MANE Select	ENSP00000325527.5:p.Ile2475Thr
ENST00000674301.1:c.2590T>C	ENSP00000501333.1:n.2590T>C
ENST00000316623.9:c.7424T>C	ENSP00000325527.5:p.Ile2475Thr
ENST00000559133.5:c.2793T>C
NM_000138.4:c.7424T>C , LRG_778t1:c.7424T>C	NP_000129.3:p.Ile2475Thr
NM_000138.5:c.7424T>C MANE Select	NP_000129.3:p.Ile2475Thr