Canonical Allele Identifier: CA2575716491

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48420655A>G , CM000677.2:g.48420655A>G	GRCh38
NC_000015.9:g.48712852A>G , CM000677.1:g.48712852A>G	GRCh37
NC_000015.8:g.46500144A>G	NCBI36
NG_008805.2:g.230134T>C , LRG_778:g.230134T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*627+32T>C	ENSP00000453958.2:n.*627+32T>C
ENST00000674301.2:c.*1332+32T>C	ENSP00000501333.2:n.*1332+32T>C
ENST00000682170.1:n.2000+32T>C
ENST00000682767.1:n.1116+32T>C
ENST00000316623.10:c.7819+32T>C MANE Select	ENSP00000325527.5:n.7819+32T>C
ENST00000674301.1:c.2985+32T>C	ENSP00000501333.1:n.2985+32T>C
ENST00000316623.9:c.7819+32T>C	ENSP00000325527.5:n.7819+32T>C
ENST00000559133.5:c.3188+32T>C
NM_000138.4:c.7819+32T>C , LRG_778t1:c.7819+32T>C	NP_000129.3:n.7819+32T>C
NM_000138.5:c.7819+32T>C MANE Select	NP_000129.3:n.7819+32T>C