Canonical Allele Identifier: CA016518

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200194
• ClinVar RCV Id: RCV000181701
• dbSNP Id: rs794728252
• MyVariant Identifiers: chr15:g.48729158C>A (hg19) ; chr15:g.48436961C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48436961C>A , CM000677.2:g.48436961C>A	GRCh38
NC_000015.9:g.48729158C>A , CM000677.1:g.48729158C>A	GRCh37
NC_000015.8:g.46516450C>A	NCBI36
NG_008805.2:g.213828G>T , LRG_778:g.213828G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6496G>T	ENSP00000453958.2:p.Asp2166Tyr
ENST00000674301.2:c.6496G>T	ENSP00000501333.2:p.Asp2166Tyr
ENST00000682170.1:n.105G>T
ENST00000316623.10:c.6496G>T MANE Select	ENSP00000325527.5:p.Asp2166Tyr
ENST00000674301.1:c.1495G>T	ENSP00000501333.1:p.Asp499Tyr
ENST00000316623.9:c.6496G>T	ENSP00000325527.5:p.Asp2166Tyr
ENST00000537463.6:c.*2259G>T	ENSP00000440294.2:n.*2259G>T
ENST00000559133.5:c.1803G>T
NM_000138.4:c.6496G>T , LRG_778t1:c.6496G>T	NP_000129.3:p.Asp2166Tyr
NM_000138.5:c.6496G>T MANE Select	NP_000129.3:p.Asp2166Tyr