Canonical Allele Identifier: CA392330852

Gene: FBN1

Linked Data

• dbSNP Id: rs2042998959
• MyVariant Identifiers: chr15:g.48720645G>A (hg19) ; chr15:g.48428448G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428448G>A , CM000677.2:g.48428448G>A	GRCh38
NC_000015.9:g.48720645G>A , CM000677.1:g.48720645G>A	GRCh37
NC_000015.8:g.46507937G>A	NCBI36
NG_008805.2:g.222341C>T , LRG_778:g.222341C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6895C>T	ENSP00000453958.2:p.Pro2299Ser
ENST00000674301.2:c.*346C>T	ENSP00000501333.2:n.*346C>T
ENST00000682170.1:n.504C>T
ENST00000682767.1:n.130C>T
ENST00000316623.10:c.6895C>T MANE Select	ENSP00000325527.5:p.Pro2299Ser
ENST00000674301.1:c.1999C>T	ENSP00000501333.1:n.1999C>T
ENST00000316623.9:c.6895C>T	ENSP00000325527.5:p.Pro2299Ser
ENST00000559133.5:c.2202C>T
ENST00000560720.1:n.182C>T
NM_000138.4:c.6895C>T , LRG_778t1:c.6895C>T	NP_000129.3:p.Pro2299Ser
NM_000138.5:c.6895C>T MANE Select	NP_000129.3:p.Pro2299Ser