Canonical Allele Identifier: CA392333475

Gene: FBN1

Linked Data

• ClinVar Variation Id: 457251
• ClinVar RCV Id: RCV000534406
• dbSNP Id: rs1555394915
• MyVariant Identifiers: chr15:g.48725123A>G (hg19) ; chr15:g.48432926A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432926A>G , CM000677.2:g.48432926A>G	GRCh38
NC_000015.9:g.48725123A>G , CM000677.1:g.48725123A>G	GRCh37
NC_000015.8:g.46512415A>G	NCBI36
NG_008805.2:g.217863T>C , LRG_778:g.217863T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6679T>C	ENSP00000453958.2:p.Ser2227Pro
ENST00000674301.2:c.*130T>C	ENSP00000501333.2:n.*130T>C
ENST00000682170.1:n.288T>C
ENST00000316623.10:c.6679T>C MANE Select	ENSP00000325527.5:p.Ser2227Pro
ENST00000674301.1:c.1783T>C	ENSP00000501333.1:n.1783T>C
ENST00000316623.9:c.6679T>C	ENSP00000325527.5:p.Ser2227Pro
ENST00000537463.6:c.*2442T>C	ENSP00000440294.2:n.*2442T>C
ENST00000559133.5:c.1986T>C
NM_000138.4:c.6679T>C , LRG_778t1:c.6679T>C	NP_000129.3:p.Ser2227Pro
NM_000138.5:c.6679T>C MANE Select	NP_000129.3:p.Ser2227Pro