Canonical Allele Identifier: CA392338430

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2952078
• ClinVar RCV Id: RCV003815229
• MyVariant Identifiers: chr15:g.48733999T>G (hg19) ; chr15:g.48441802T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441802T>G , CM000677.2:g.48441802T>G	GRCh38
NC_000015.9:g.48733999T>G , CM000677.1:g.48733999T>G	GRCh37
NC_000015.8:g.46521291T>G	NCBI36
NG_008805.2:g.208987A>C , LRG_778:g.208987A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6082A>C	ENSP00000453958.2:p.Thr2028Pro
ENST00000674301.2:c.6082A>C	ENSP00000501333.2:p.Thr2028Pro
ENST00000316623.10:c.6082A>C MANE Select	ENSP00000325527.5:p.Thr2028Pro
ENST00000674301.1:c.1081A>C	ENSP00000501333.1:p.Thr361Pro
ENST00000316623.9:c.6082A>C	ENSP00000325527.5:p.Thr2028Pro
ENST00000537463.6:c.*1845A>C	ENSP00000440294.2:n.*1845A>C
ENST00000559133.5:c.1389A>C
ENST00000560820.1:n.202A>C
NM_000138.4:c.6082A>C , LRG_778t1:c.6082A>C	NP_000129.3:p.Thr2028Pro
NM_000138.5:c.6082A>C MANE Select	NP_000129.3:p.Thr2028Pro