Canonical Allele Identifier: CA392338141

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2176304
• ClinVar RCV Id: RCV002582318 ; RCV003738298 ; RCV004009449
• MyVariant Identifiers: chr15:g.48733959G>A (hg19) ; chr15:g.48441762G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441762G>A , CM000677.2:g.48441762G>A	GRCh38
NC_000015.9:g.48733959G>A , CM000677.1:g.48733959G>A	GRCh37
NC_000015.8:g.46521251G>A	NCBI36
NG_008805.2:g.209027C>T , LRG_778:g.209027C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6122C>T	ENSP00000453958.2:p.Pro2041Leu
ENST00000674301.2:c.6122C>T	ENSP00000501333.2:p.Pro2041Leu
ENST00000316623.10:c.6122C>T MANE Select	ENSP00000325527.5:p.Pro2041Leu
ENST00000674301.1:c.1121C>T	ENSP00000501333.1:p.Pro374Leu
ENST00000316623.9:c.6122C>T	ENSP00000325527.5:p.Pro2041Leu
ENST00000537463.6:c.*1885C>T	ENSP00000440294.2:n.*1885C>T
ENST00000559133.5:c.1429C>T
ENST00000560820.1:n.242C>T
NM_000138.4:c.6122C>T , LRG_778t1:c.6122C>T	NP_000129.3:p.Pro2041Leu
NM_000138.5:c.6122C>T MANE Select	NP_000129.3:p.Pro2041Leu