Canonical Allele Identifier: CA392340499

Gene: FBN1

Linked Data

• gnomAD v4: 15-48508663-T-C
• MyVariant Identifiers: chr15:g.48800860T>C (hg19) ; chr15:g.48508663T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48508663T>C , CM000677.2:g.48508663T>C	GRCh38
NC_000015.9:g.48800860T>C , CM000677.1:g.48800860T>C	GRCh37
NC_000015.8:g.46588152T>C	NCBI36
NG_008805.2:g.142126A>G , LRG_778:g.142126A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1756A>G	ENSP00000453958.2:p.Met586Val
ENST00000674301.2:c.1756A>G	ENSP00000501333.2:p.Met586Val
ENST00000684448.1:n.430A>G
ENST00000316623.10:c.1756A>G MANE Select	ENSP00000325527.5:p.Met586Val
ENST00000316623.9:c.1756A>G	ENSP00000325527.5:p.Met586Val
ENST00000537463.6:c.636+29048A>G	ENSP00000440294.2:n.636+29048A>G
NM_000138.4:c.1756A>G , LRG_778t1:c.1756A>G	NP_000129.3:p.Met586Val
NM_000138.5:c.1756A>G MANE Select	NP_000129.3:p.Met586Val