Canonical Allele Identifier: CA392332824

Gene: FBN1

Linked Data

• gnomAD v4: 15-48430784-T-G
• MyVariant Identifiers: chr15:g.48722981T>G (hg19) ; chr15:g.48430784T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430784T>G , CM000677.2:g.48430784T>G	GRCh38
NC_000015.9:g.48722981T>G , CM000677.1:g.48722981T>G	GRCh37
NC_000015.8:g.46510273T>G	NCBI36
NG_008805.2:g.220005A>C , LRG_778:g.220005A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6758A>C	ENSP00000453958.2:p.Glu2253Ala
ENST00000674301.2:c.*209A>C	ENSP00000501333.2:n.*209A>C
ENST00000682170.1:n.367A>C
ENST00000316623.10:c.6758A>C MANE Select	ENSP00000325527.5:p.Glu2253Ala
ENST00000674301.1:c.1862A>C	ENSP00000501333.1:n.1862A>C
ENST00000316623.9:c.6758A>C	ENSP00000325527.5:p.Glu2253Ala
ENST00000537463.6:c.*2521A>C	ENSP00000440294.2:n.*2521A>C
ENST00000559133.5:c.2065A>C
ENST00000560720.1:n.45A>C
NM_000138.4:c.6758A>C , LRG_778t1:c.6758A>C	NP_000129.3:p.Glu2253Ala
NM_000138.5:c.6758A>C MANE Select	NP_000129.3:p.Glu2253Ala