Canonical Allele Identifier: CA269524605

Gene: FBN1

Linked Data

• ClinVar Variation Id: 519696
• ClinVar RCV Id: RCV000663877 ; RCV000812728 ; RCV002314300
• dbSNP Id: rs910656654
• MyVariant Identifiers: chr15:g.48726853A>G (hg19) ; chr15:g.48434656A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434656A>G , CM000677.2:g.48434656A>G	GRCh38
NC_000015.9:g.48726853A>G , CM000677.1:g.48726853A>G	GRCh37
NC_000015.8:g.46514145A>G	NCBI36
NG_008805.2:g.216133T>C , LRG_778:g.216133T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6554T>C	ENSP00000453958.2:p.Ile2185Thr
ENST00000674301.2:c.6554T>C	ENSP00000501333.2:p.Ile2185Thr
ENST00000682170.1:n.163T>C
ENST00000316623.10:c.6554T>C MANE Select	ENSP00000325527.5:p.Ile2185Thr
ENST00000674301.1:c.1553T>C	ENSP00000501333.1:p.Ile518Thr
ENST00000316623.9:c.6554T>C	ENSP00000325527.5:p.Ile2185Thr
ENST00000537463.6:c.*2317T>C	ENSP00000440294.2:n.*2317T>C
ENST00000559133.5:c.1861T>C
NM_000138.4:c.6554T>C , LRG_778t1:c.6554T>C	NP_000129.3:p.Ile2185Thr
NM_000138.5:c.6554T>C MANE Select	NP_000129.3:p.Ile2185Thr