Canonical Allele Identifier: CA016598

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200090
• ClinVar RCV Id: RCV000181573 ; RCV001069452
• dbSNP Id: rs794728254
• MyVariant Identifiers: chr15:g.48725152C>T (hg19) ; chr15:g.48432955C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432955C>T , CM000677.2:g.48432955C>T	GRCh38
NC_000015.9:g.48725152C>T , CM000677.1:g.48725152C>T	GRCh37
NC_000015.8:g.46512444C>T	NCBI36
NG_008805.2:g.217834G>A , LRG_778:g.217834G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6650G>A	ENSP00000453958.2:p.Cys2217Tyr
ENST00000674301.2:c.*101G>A	ENSP00000501333.2:n.*101G>A
ENST00000682170.1:n.259G>A
ENST00000316623.10:c.6650G>A MANE Select	ENSP00000325527.5:p.Cys2217Tyr
ENST00000674301.1:c.1754G>A	ENSP00000501333.1:n.1754G>A
ENST00000316623.9:c.6650G>A	ENSP00000325527.5:p.Cys2217Tyr
ENST00000537463.6:c.*2413G>A	ENSP00000440294.2:n.*2413G>A
ENST00000559133.5:c.1957G>A
NM_000138.4:c.6650G>A , LRG_778t1:c.6650G>A	NP_000129.3:p.Cys2217Tyr
NM_000138.5:c.6650G>A MANE Select	NP_000129.3:p.Cys2217Tyr