Canonical Allele Identifier: CA057249

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432896C>T , CM000677.2:g.48432896C>T	GRCh38
NC_000015.9:g.48725093C>T , CM000677.1:g.48725093C>T	GRCh37
NC_000015.8:g.46512385C>T	NCBI36
NG_008805.2:g.217893G>A , LRG_778:g.217893G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6709G>A MANE Select	NP_000129.3:p.Val2237Met
ENST00000316623.10:c.6709G>A MANE Select	ENSP00000325527.5:p.Val2237Met
NM_000138.4:c.6709G>A , LRG_778t1:c.6709G>A	NP_000129.3:p.Val2237Met
ENST00000316623.9:c.6709G>A	ENSP00000325527.5:p.Val2237Met
ENST00000537463.6:c.*2472G>A	ENSP00000440294.2:n.*2472G>A
ENST00000559133.5:c.2016G>A
ENST00000559133.6:c.6709G>A	ENSP00000453958.2:p.Val2237Met
ENST00000674301.1:c.1813G>A	ENSP00000501333.1:n.1813G>A
ENST00000674301.2:c.*160G>A	ENSP00000501333.2:n.*160G>A
ENST00000682170.1:n.318G>A