Canonical Allele Identifier: CA392319242

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703413G>C (hg19) ; chr15:g.48411216G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411216G>C , CM000677.2:g.48411216G>C	GRCh38
NC_000015.9:g.48703413G>C , CM000677.1:g.48703413G>C	GRCh37
NC_000015.8:g.46490705G>C	NCBI36
NG_008805.2:g.239573C>G , LRG_778:g.239573C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1198C>G	ENSP00000453958.2:n.*1198C>G
ENST00000674301.2:c.*1903C>G	ENSP00000501333.2:n.*1903C>G
ENST00000682158.1:n.1771C>G
ENST00000682170.1:n.2571C>G
ENST00000682767.1:n.1687C>G
ENST00000316623.10:c.8390C>G MANE Select	ENSP00000325527.5:p.Ser2797Cys
ENST00000674301.1:c.3556C>G	ENSP00000501333.1:n.3556C>G
ENST00000316623.9:c.8390C>G	ENSP00000325527.5:p.Ser2797Cys
ENST00000559133.5:c.3759C>G
ENST00000561429.1:n.645C>G
NM_000138.4:c.8390C>G , LRG_778t1:c.8390C>G	NP_000129.3:p.Ser2797Cys
NM_000138.5:c.8390C>G MANE Select	NP_000129.3:p.Ser2797Cys