Canonical Allele Identifier: CA392339879

Gene: FBN1

Linked Data

• ClinVar Variation Id: 527152
• ClinVar RCV Id: RCV000631921 ; RCV000663836
• dbSNP Id: rs1555395663
• MyVariant Identifiers: chr15:g.48736845C>T (hg19) ; chr15:g.48444648C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444648C>T , CM000677.2:g.48444648C>T	GRCh38
NC_000015.9:g.48736845C>T , CM000677.1:g.48736845C>T	GRCh37
NC_000015.8:g.46524137C>T	NCBI36
NG_008805.2:g.206141G>A , LRG_778:g.206141G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5930G>A	ENSP00000453958.2:p.Cys1977Tyr
ENST00000674301.2:c.5930G>A	ENSP00000501333.2:p.Cys1977Tyr
ENST00000684448.1:n.4604G>A
ENST00000316623.10:c.5930G>A MANE Select	ENSP00000325527.5:p.Cys1977Tyr
ENST00000674301.1:c.929G>A	ENSP00000501333.1:p.Cys310Tyr
ENST00000316623.9:c.5930G>A	ENSP00000325527.5:p.Cys1977Tyr
ENST00000537463.6:c.*1693G>A	ENSP00000440294.2:n.*1693G>A
ENST00000559133.5:c.1237G>A
ENST00000560820.1:n.50G>A
NM_000138.4:c.5930G>A , LRG_778t1:c.5930G>A	NP_000129.3:p.Cys1977Tyr
NM_000138.5:c.5930G>A MANE Select	NP_000129.3:p.Cys1977Tyr