Canonical Allele Identifier: CA392335313

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2948442
• ClinVar RCV Id: RCV003809216
• MyVariant Identifiers: chr15:g.48726902C>T (hg19) ; chr15:g.48434705C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434705C>T , CM000677.2:g.48434705C>T	GRCh38
NC_000015.9:g.48726902C>T , CM000677.1:g.48726902C>T	GRCh37
NC_000015.8:g.46514194C>T	NCBI36
NG_008805.2:g.216084G>A , LRG_778:g.216084G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6505G>A	ENSP00000453958.2:p.Glu2169Lys
ENST00000674301.2:c.6505G>A	ENSP00000501333.2:p.Glu2169Lys
ENST00000682170.1:n.114G>A
ENST00000316623.10:c.6505G>A MANE Select	ENSP00000325527.5:p.Glu2169Lys
ENST00000674301.1:c.1504G>A	ENSP00000501333.1:p.Glu502Lys
ENST00000316623.9:c.6505G>A	ENSP00000325527.5:p.Glu2169Lys
ENST00000537463.6:c.*2268G>A	ENSP00000440294.2:n.*2268G>A
ENST00000559133.5:c.1812G>A
NM_000138.4:c.6505G>A , LRG_778t1:c.6505G>A	NP_000129.3:p.Glu2169Lys
NM_000138.5:c.6505G>A MANE Select	NP_000129.3:p.Glu2169Lys