Canonical Allele Identifier: CA392337901

Gene: FBN1

Linked Data

• ClinVar Variation Id: 527145
• ClinVar RCV Id: RCV000631911
• dbSNP Id: rs363805
• MyVariant Identifiers: chr15:g.48733923C>T (hg19) ; chr15:g.48441726C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441726C>T , CM000677.2:g.48441726C>T	GRCh38
NC_000015.9:g.48733923C>T , CM000677.1:g.48733923C>T	GRCh37
NC_000015.8:g.46521215C>T	NCBI36
NG_008805.2:g.209063G>A , LRG_778:g.209063G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6158G>A	ENSP00000453958.2:p.Cys2053Tyr
ENST00000674301.2:c.6158G>A	ENSP00000501333.2:p.Cys2053Tyr
ENST00000316623.10:c.6158G>A MANE Select	ENSP00000325527.5:p.Cys2053Tyr
ENST00000674301.1:c.1157G>A	ENSP00000501333.1:p.Cys386Tyr
ENST00000316623.9:c.6158G>A	ENSP00000325527.5:p.Cys2053Tyr
ENST00000537463.6:c.*1921G>A	ENSP00000440294.2:n.*1921G>A
ENST00000559133.5:c.1465G>A
ENST00000560820.1:n.278G>A
NM_000138.4:c.6158G>A , LRG_778t1:c.6158G>A	NP_000129.3:p.Cys2053Tyr
NM_000138.5:c.6158G>A MANE Select	NP_000129.3:p.Cys2053Tyr