Canonical Allele Identifier: CA016131

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42393
• ClinVar RCV Id: RCV000035235 ; RCV000181551 ; RCV001852714
• dbSNP Id: rs363807
• MyVariant Identifiers: chr15:g.48737627G>A (hg19) ; chr15:g.48445430G>A (hg38)
• PubMed: PMID:12068374

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445430G>A , CM000677.2:g.48445430G>A	GRCh38
NC_000015.9:g.48737627G>A , CM000677.1:g.48737627G>A	GRCh37
NC_000015.8:g.46524919G>A	NCBI36
NG_008805.2:g.205359C>T , LRG_778:g.205359C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5863C>T	ENSP00000453958.2:p.Gln1955Ter
ENST00000674301.2:c.5863C>T	ENSP00000501333.2:p.Gln1955Ter
ENST00000684448.1:n.4537C>T
ENST00000316623.10:c.5863C>T MANE Select	ENSP00000325527.5:p.Gln1955Ter
ENST00000674301.1:c.862C>T	ENSP00000501333.1:p.Gln288Ter
ENST00000316623.9:c.5863C>T	ENSP00000325527.5:p.Gln1955Ter
ENST00000537463.6:c.*1626C>T	ENSP00000440294.2:n.*1626C>T
ENST00000559133.5:c.1170C>T
NM_000138.4:c.5863C>T , LRG_778t1:c.5863C>T	NP_000129.3:p.Gln1955Ter
NM_000138.5:c.5863C>T MANE Select	NP_000129.3:p.Gln1955Ter