Canonical Allele Identifier: CA500016

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549257
• ClinVar RCV Id: RCV000663758 ; RCV002334230
• dbSNP Id: rs140627
• MyVariant Identifiers: chr15:g.48756146C>G (hg19) ; chr15:g.48463949C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463949C>G , CM000677.2:g.48463949C>G	GRCh38
NC_000015.9:g.48756146C>G , CM000677.1:g.48756146C>G	GRCh37
NC_000015.8:g.46543438C>G	NCBI36
NG_008805.2:g.186840G>C , LRG_778:g.186840G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.5015G>C	ENSP00000453958.2:p.Cys1672Ser
ENST00000674301.2:c.5015G>C	ENSP00000501333.2:p.Cys1672Ser
ENST00000684448.1:n.3689G>C
ENST00000316623.10:c.5015G>C MANE Select	ENSP00000325527.5:p.Cys1672Ser
ENST00000674301.1:c.14G>C	ENSP00000501333.1:p.Cys5Ser
ENST00000316623.9:c.5015G>C	ENSP00000325527.5:p.Cys1672Ser
ENST00000537463.6:c.*778G>C	ENSP00000440294.2:n.*778G>C
ENST00000559133.5:c.322G>C
NM_000138.4:c.5015G>C , LRG_778t1:c.5015G>C	NP_000129.3:p.Cys1672Ser
NM_000138.5:c.5015G>C MANE Select	NP_000129.3:p.Cys1672Ser