Canonical Allele Identifier: CA392347916

Gene: FBN1

Linked Data

• gnomAD v4: 15-48520808-G-A
• MyVariant Identifiers: chr15:g.48813005G>A (hg19) ; chr15:g.48520808G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48520808G>A , CM000677.2:g.48520808G>A	GRCh38
NC_000015.9:g.48813005G>A , CM000677.1:g.48813005G>A	GRCh37
NC_000015.8:g.46600297G>A	NCBI36
NG_008805.2:g.129981C>T , LRG_778:g.129981C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.998C>T	ENSP00000453958.2:p.Pro333Leu
ENST00000674301.2:c.998C>T	ENSP00000501333.2:p.Pro333Leu
ENST00000316623.10:c.998C>T MANE Select	ENSP00000325527.5:p.Pro333Leu
ENST00000316623.9:c.998C>T	ENSP00000325527.5:p.Pro333Leu
ENST00000537463.6:c.636+16903C>T	ENSP00000440294.2:n.636+16903C>T
NM_000138.4:c.998C>T , LRG_778t1:c.998C>T	NP_000129.3:p.Pro333Leu
NM_000138.5:c.998C>T MANE Select	NP_000129.3:p.Pro333Leu