Canonical Allele Identifier: CA392330426

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48720550C>A (hg19) ; chr15:g.48428353C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428353C>A , CM000677.2:g.48428353C>A	GRCh38
NC_000015.9:g.48720550C>A , CM000677.1:g.48720550C>A	GRCh37
NC_000015.8:g.46507842C>A	NCBI36
NG_008805.2:g.222436G>T , LRG_778:g.222436G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6990G>T	ENSP00000453958.2:p.Glu2330Asp
ENST00000674301.2:c.*441G>T	ENSP00000501333.2:n.*441G>T
ENST00000682170.1:n.599G>T
ENST00000682767.1:n.225G>T
ENST00000316623.10:c.6990G>T MANE Select	ENSP00000325527.5:p.Glu2330Asp
ENST00000674301.1:c.2094G>T	ENSP00000501333.1:n.2094G>T
ENST00000316623.9:c.6990G>T	ENSP00000325527.5:p.Glu2330Asp
ENST00000559133.5:c.2297G>T
ENST00000560720.1:n.277G>T
NM_000138.4:c.6990G>T , LRG_778t1:c.6990G>T	NP_000129.3:p.Glu2330Asp
NM_000138.5:c.6990G>T MANE Select	NP_000129.3:p.Glu2330Asp