Canonical Allele Identifier: CA392330781

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48720630T>C (hg19) ; chr15:g.48428433T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428433T>C , CM000677.2:g.48428433T>C	GRCh38
NC_000015.9:g.48720630T>C , CM000677.1:g.48720630T>C	GRCh37
NC_000015.8:g.46507922T>C	NCBI36
NG_008805.2:g.222356A>G , LRG_778:g.222356A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6910A>G	ENSP00000453958.2:p.Asn2304Asp
ENST00000674301.2:c.*361A>G	ENSP00000501333.2:n.*361A>G
ENST00000682170.1:n.519A>G
ENST00000682767.1:n.145A>G
ENST00000316623.10:c.6910A>G MANE Select	ENSP00000325527.5:p.Asn2304Asp
ENST00000674301.1:c.2014A>G	ENSP00000501333.1:n.2014A>G
ENST00000316623.9:c.6910A>G	ENSP00000325527.5:p.Asn2304Asp
ENST00000559133.5:c.2217A>G
ENST00000560720.1:n.197A>G
NM_000138.4:c.6910A>G , LRG_778t1:c.6910A>G	NP_000129.3:p.Asn2304Asp
NM_000138.5:c.6910A>G MANE Select	NP_000129.3:p.Asn2304Asp