Canonical Allele Identifier: CA392338340

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2506792
• ClinVar RCV Id: RCV003237161
• MyVariant Identifiers: chr15:g.48733987T>C (hg19) ; chr15:g.48441790T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441790T>C , CM000677.2:g.48441790T>C	GRCh38
NC_000015.9:g.48733987T>C , CM000677.1:g.48733987T>C	GRCh37
NC_000015.8:g.46521279T>C	NCBI36
NG_008805.2:g.208999A>G , LRG_778:g.208999A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6094A>G	ENSP00000453958.2:p.Thr2032Ala
ENST00000674301.2:c.6094A>G	ENSP00000501333.2:p.Thr2032Ala
ENST00000316623.10:c.6094A>G MANE Select	ENSP00000325527.5:p.Thr2032Ala
ENST00000674301.1:c.1093A>G	ENSP00000501333.1:p.Thr365Ala
ENST00000316623.9:c.6094A>G	ENSP00000325527.5:p.Thr2032Ala
ENST00000537463.6:c.*1857A>G	ENSP00000440294.2:n.*1857A>G
ENST00000559133.5:c.1401A>G
ENST00000560820.1:n.214A>G
NM_000138.4:c.6094A>G , LRG_778t1:c.6094A>G	NP_000129.3:p.Thr2032Ala
NM_000138.5:c.6094A>G MANE Select	NP_000129.3:p.Thr2032Ala