Canonical Allele Identifier: CA392325931

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48714198G>C (hg19) ; chr15:g.48422001G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422001G>C , CM000677.2:g.48422001G>C	GRCh38
NC_000015.9:g.48714198G>C , CM000677.1:g.48714198G>C	GRCh37
NC_000015.8:g.46501490G>C	NCBI36
NG_008805.2:g.228788C>G , LRG_778:g.228788C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*329C>G	ENSP00000453958.2:n.*329C>G
ENST00000674301.2:c.*1034C>G	ENSP00000501333.2:n.*1034C>G
ENST00000682170.1:n.1702C>G
ENST00000682767.1:n.818C>G
ENST00000316623.10:c.7521C>G MANE Select	ENSP00000325527.5:p.Phe2507Leu
ENST00000674301.1:c.2687C>G	ENSP00000501333.1:n.2687C>G
ENST00000316623.9:c.7521C>G	ENSP00000325527.5:p.Phe2507Leu
ENST00000559133.5:c.2890C>G
NM_000138.4:c.7521C>G , LRG_778t1:c.7521C>G	NP_000129.3:p.Phe2507Leu
NM_000138.5:c.7521C>G MANE Select	NP_000129.3:p.Phe2507Leu