Canonical Allele Identifier: CA490015681

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48713828C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421631C>T , CM000677.2:g.48421631C>T	GRCh38
NC_000015.9:g.48713828C>T , CM000677.1:g.48713828C>T	GRCh37
NC_000015.8:g.46501120C>T	NCBI36
NG_008805.2:g.229158G>A , LRG_778:g.229158G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*434G>A	ENSP00000453958.2:n.*434G>A
ENST00000674301.2:c.*1139G>A	ENSP00000501333.2:n.*1139G>A
ENST00000682170.1:n.1807G>A
ENST00000682767.1:n.923G>A
ENST00000316623.10:c.7626G>A MANE Select	ENSP00000325527.5:p.Gln2542=
ENST00000674301.1:c.2792G>A	ENSP00000501333.1:n.2792G>A
ENST00000316623.9:c.7626G>A	ENSP00000325527.5:p.Gln2542=
ENST00000559133.5:c.2995G>A
NM_000138.4:c.7626G>A , LRG_778t1:c.7626G>A	NP_000129.3:p.Gln2542=
NM_000138.5:c.7626G>A MANE Select	NP_000129.3:p.Gln2542=