Canonical Allele Identifier: CA015860

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200065
• ClinVar RCV Id: RCV000181546 ; RCV000632002
• dbSNP Id: rs78970689
• MyVariant Identifiers: chr15:g.48744791C>T (hg19) ; chr15:g.48452594C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48452594C>T , CM000677.2:g.48452594C>T	GRCh38
NC_000015.9:g.48744791C>T , CM000677.1:g.48744791C>T	GRCh37
NC_000015.8:g.46532083C>T	NCBI36
NG_008805.2:g.198195G>A , LRG_778:g.198195G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5513G>A	ENSP00000453958.2:p.Gly1838Asp
ENST00000674301.2:c.5513G>A	ENSP00000501333.2:p.Gly1838Asp
ENST00000684448.1:n.4187G>A
ENST00000316623.10:c.5513G>A MANE Select	ENSP00000325527.5:p.Gly1838Asp
ENST00000674301.1:c.512G>A	ENSP00000501333.1:p.Gly171Asp
ENST00000316623.9:c.5513G>A	ENSP00000325527.5:p.Gly1838Asp
ENST00000537463.6:c.*1276G>A	ENSP00000440294.2:n.*1276G>A
ENST00000559133.5:c.820G>A
NM_000138.4:c.5513G>A , LRG_778t1:c.5513G>A	NP_000129.3:p.Gly1838Asp
NM_000138.5:c.5513G>A MANE Select	NP_000129.3:p.Gly1838Asp