Canonical Allele Identifier: CA392343838

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48452560A>G , CM000677.2:g.48452560A>G	GRCh38
NC_000015.9:g.48744757A>G , CM000677.1:g.48744757A>G	GRCh37
NC_000015.8:g.46532049A>G	NCBI36
NG_008805.2:g.198229T>C , LRG_778:g.198229T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5545+2T>C MANE Select	NP_000129.3:n.5545+2T>C
ENST00000316623.10:c.5545+2T>C MANE Select	ENSP00000325527.5:n.5545+2T>C
NM_000138.4:c.5545+2T>C , LRG_778t1:c.5545+2T>C	NP_000129.3:n.5545+2T>C
ENST00000316623.9:c.5545+2T>C	ENSP00000325527.5:n.5545+2T>C
ENST00000537463.6:c.*1308+2T>C	ENSP00000440294.2:n.*1308+2T>C
ENST00000559133.5:c.852+2T>C
ENST00000559133.6:c.5545+2T>C	ENSP00000453958.2:n.5545+2T>C
ENST00000674301.1:c.544+2T>C	ENSP00000501333.1:n.544+2T>C
ENST00000674301.2:c.5545+2T>C	ENSP00000501333.2:n.5545+2T>C
ENST00000684448.1:n.4219+2T>C