Canonical Allele Identifier: CA392319944

Gene: FBN1

Linked Data

• ClinVar Variation Id: 3047165
• ClinVar RCV Id: RCV004006188 ; RCV004543908
• MyVariant Identifiers: chr15:g.48703524T>A (hg19) ; chr15:g.48411327T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411327T>A , CM000677.2:g.48411327T>A	GRCh38
NC_000015.9:g.48703524T>A , CM000677.1:g.48703524T>A	GRCh37
NC_000015.8:g.46490816T>A	NCBI36
NG_008805.2:g.239462A>T , LRG_778:g.239462A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1087A>T	ENSP00000453958.2:n.*1087A>T
ENST00000674301.2:c.*1792A>T	ENSP00000501333.2:n.*1792A>T
ENST00000682158.1:n.1660A>T
ENST00000682170.1:n.2460A>T
ENST00000682767.1:n.1576A>T
ENST00000316623.10:c.8279A>T MANE Select	ENSP00000325527.5:p.Lys2760Met
ENST00000674301.1:c.3445A>T	ENSP00000501333.1:n.3445A>T
ENST00000316623.9:c.8279A>T	ENSP00000325527.5:p.Lys2760Met
ENST00000559133.5:c.3648A>T
ENST00000561429.1:n.534A>T
NM_000138.4:c.8279A>T , LRG_778t1:c.8279A>T	NP_000129.3:p.Lys2760Met
NM_000138.5:c.8279A>T MANE Select	NP_000129.3:p.Lys2760Met