Canonical Allele Identifier: CA392325908

Gene: FBN1

Linked Data

• ClinVar Variation Id: 527160
• ClinVar RCV Id: RCV000631936 ; RCV000663961 ; RCV001591408 ; RCV003485619
• dbSNP Id: rs1555394238
• MyVariant Identifiers: chr15:g.48714187C>T (hg19) ; chr15:g.48421990C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421990C>T , CM000677.2:g.48421990C>T	GRCh38
NC_000015.9:g.48714187C>T , CM000677.1:g.48714187C>T	GRCh37
NC_000015.8:g.46501479C>T	NCBI36
NG_008805.2:g.228799G>A , LRG_778:g.228799G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*340G>A	ENSP00000453958.2:n.*340G>A
ENST00000674301.2:c.*1045G>A	ENSP00000501333.2:n.*1045G>A
ENST00000682170.1:n.1713G>A
ENST00000682767.1:n.829G>A
ENST00000316623.10:c.7532G>A MANE Select	ENSP00000325527.5:p.Cys2511Tyr
ENST00000674301.1:c.2698G>A	ENSP00000501333.1:n.2698G>A
ENST00000316623.9:c.7532G>A	ENSP00000325527.5:p.Cys2511Tyr
ENST00000559133.5:c.2901G>A
NM_000138.4:c.7532G>A , LRG_778t1:c.7532G>A	NP_000129.3:p.Cys2511Tyr
NM_000138.5:c.7532G>A MANE Select	NP_000129.3:p.Cys2511Tyr