Canonical Allele Identifier: CA392445853

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48537646C>T , CM000677.2:g.48537646C>T	GRCh38
NC_000015.9:g.48829843C>T , CM000677.1:g.48829843C>T	GRCh37
NC_000015.8:g.46617135C>T	NCBI36
NG_008805.2:g.113143G>A , LRG_778:g.113143G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.701G>A MANE Select	NP_000129.3:p.Gly234Asp
ENST00000316623.10:c.701G>A MANE Select	ENSP00000325527.5:p.Gly234Asp
NM_000138.4:c.701G>A , LRG_778t1:c.701G>A	NP_000129.3:p.Gly234Asp
ENST00000316623.9:c.701G>A	ENSP00000325527.5:p.Gly234Asp
ENST00000537463.6:c.636+65G>A	ENSP00000440294.2:n.636+65G>A
ENST00000559133.6:c.701G>A	ENSP00000453958.2:p.Gly234Asp
ENST00000674301.2:c.701G>A	ENSP00000501333.2:p.Gly234Asp