Canonical Allele Identifier: CA392325903

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48714185G>C (hg19) ; chr15:g.48421988G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421988G>C , CM000677.2:g.48421988G>C	GRCh38
NC_000015.9:g.48714185G>C , CM000677.1:g.48714185G>C	GRCh37
NC_000015.8:g.46501477G>C	NCBI36
NG_008805.2:g.228801C>G , LRG_778:g.228801C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*342C>G	ENSP00000453958.2:n.*342C>G
ENST00000674301.2:c.*1047C>G	ENSP00000501333.2:n.*1047C>G
ENST00000682170.1:n.1715C>G
ENST00000682767.1:n.831C>G
ENST00000316623.10:c.7534C>G MANE Select	ENSP00000325527.5:p.Pro2512Ala
ENST00000674301.1:c.2700C>G	ENSP00000501333.1:n.2700C>G
ENST00000316623.9:c.7534C>G	ENSP00000325527.5:p.Pro2512Ala
ENST00000559133.5:c.2903C>G
NM_000138.4:c.7534C>G , LRG_778t1:c.7534C>G	NP_000129.3:p.Pro2512Ala
NM_000138.5:c.7534C>G MANE Select	NP_000129.3:p.Pro2512Ala