Canonical Allele Identifier: CA392339961

Gene: FBN1

Linked Data

• dbSNP Id: rs2043150491
• gnomAD v3: 15-48445396-G-A
• gnomAD v4: 15-48445396-G-A
• MyVariant Identifiers: chr15:g.48737593G>A (hg19) ; chr15:g.48445396G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445396G>A , CM000677.2:g.48445396G>A	GRCh38
NC_000015.9:g.48737593G>A , CM000677.1:g.48737593G>A	GRCh37
NC_000015.8:g.46524885G>A	NCBI36
NG_008805.2:g.205393C>T , LRG_778:g.205393C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5897C>T	ENSP00000453958.2:p.Pro1966Leu
ENST00000674301.2:c.5897C>T	ENSP00000501333.2:p.Pro1966Leu
ENST00000684448.1:n.4571C>T
ENST00000316623.10:c.5897C>T MANE Select	ENSP00000325527.5:p.Pro1966Leu
ENST00000674301.1:c.896C>T	ENSP00000501333.1:p.Pro299Leu
ENST00000316623.9:c.5897C>T	ENSP00000325527.5:p.Pro1966Leu
ENST00000537463.6:c.*1660C>T	ENSP00000440294.2:n.*1660C>T
ENST00000559133.5:c.1204C>T
ENST00000560820.1:n.17C>T
NM_000138.4:c.5897C>T , LRG_778t1:c.5897C>T	NP_000129.3:p.Pro1966Leu
NM_000138.5:c.5897C>T MANE Select	NP_000129.3:p.Pro1966Leu