Canonical Allele Identifier: CA016658

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200091
• ClinVar RCV Id: RCV000181576 ; RCV000801586 ; RCV000663893 ; RCV002362929
• dbSNP Id: rs794728255
• COSMIC: COSM962368
• MyVariant Identifiers: chr15:g.48725105G>A (hg19) ; chr15:g.48432908G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432908G>A , CM000677.2:g.48432908G>A	GRCh38
NC_000015.9:g.48725105G>A , CM000677.1:g.48725105G>A	GRCh37
NC_000015.8:g.46512397G>A	NCBI36
NG_008805.2:g.217881C>T , LRG_778:g.217881C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6697C>T	ENSP00000453958.2:p.Pro2233Ser
ENST00000674301.2:c.*148C>T	ENSP00000501333.2:n.*148C>T
ENST00000682170.1:n.306C>T
ENST00000316623.10:c.6697C>T MANE Select	ENSP00000325527.5:p.Pro2233Ser
ENST00000674301.1:c.1801C>T	ENSP00000501333.1:n.1801C>T
ENST00000316623.9:c.6697C>T	ENSP00000325527.5:p.Pro2233Ser
ENST00000537463.6:c.*2460C>T	ENSP00000440294.2:n.*2460C>T
ENST00000559133.5:c.2004C>T
NM_000138.4:c.6697C>T , LRG_778t1:c.6697C>T	NP_000129.3:p.Pro2233Ser
NM_000138.5:c.6697C>T MANE Select	NP_000129.3:p.Pro2233Ser