Canonical Allele Identifier: CA392318768

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703300G>A (hg19) ; chr15:g.48411103G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411103G>A , CM000677.2:g.48411103G>A	GRCh38
NC_000015.9:g.48703300G>A , CM000677.1:g.48703300G>A	GRCh37
NC_000015.8:g.46490592G>A	NCBI36
NG_008805.2:g.239686C>T , LRG_778:g.239686C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1311C>T	ENSP00000453958.2:n.*1311C>T
ENST00000674301.2:c.*2016C>T	ENSP00000501333.2:n.*2016C>T
ENST00000682158.1:n.1884C>T
ENST00000682170.1:n.2684C>T
ENST00000682767.1:n.1800C>T
ENST00000316623.10:c.8503C>T MANE Select	ENSP00000325527.5:p.Pro2835Ser
ENST00000674301.1:c.3669C>T	ENSP00000501333.1:n.3669C>T
ENST00000316623.9:c.8503C>T	ENSP00000325527.5:p.Pro2835Ser
ENST00000559133.5:c.3872C>T
NM_000138.4:c.8503C>T , LRG_778t1:c.8503C>T	NP_000129.3:p.Pro2835Ser
NM_000138.5:c.8503C>T MANE Select	NP_000129.3:p.Pro2835Ser