Canonical Allele Identifier: CA392323325

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48707901C>T (hg19) ; chr15:g.48415704C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415704C>T , CM000677.2:g.48415704C>T	GRCh38
NC_000015.9:g.48707901C>T , CM000677.1:g.48707901C>T	GRCh37
NC_000015.8:g.46495193C>T	NCBI36
NG_008805.2:g.235085G>A , LRG_778:g.235085G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*691G>A	ENSP00000453958.2:n.*691G>A
ENST00000674301.2:c.*1396G>A	ENSP00000501333.2:n.*1396G>A
ENST00000682158.1:n.1264G>A
ENST00000682170.1:n.2064G>A
ENST00000682767.1:n.1180G>A
ENST00000316623.10:c.7883G>A MANE Select	ENSP00000325527.5:p.Ser2628Asn
ENST00000674301.1:c.3049G>A	ENSP00000501333.1:n.3049G>A
ENST00000316623.9:c.7883G>A	ENSP00000325527.5:p.Ser2628Asn
ENST00000559133.5:c.3252G>A
ENST00000561429.1:n.138G>A
NM_000138.4:c.7883G>A , LRG_778t1:c.7883G>A	NP_000129.3:p.Ser2628Asn
NM_000138.5:c.7883G>A MANE Select	NP_000129.3:p.Ser2628Asn