Canonical Allele Identifier: CA490119141

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48707765G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415568G>C , CM000677.2:g.48415568G>C	GRCh38
NC_000015.9:g.48707765G>C , CM000677.1:g.48707765G>C	GRCh37
NC_000015.8:g.46495057G>C	NCBI36
NG_008805.2:g.235221C>G , LRG_778:g.235221C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*827C>G	ENSP00000453958.2:n.*827C>G
ENST00000674301.2:c.*1532C>G	ENSP00000501333.2:n.*1532C>G
ENST00000682158.1:n.1400C>G
ENST00000682170.1:n.2200C>G
ENST00000682767.1:n.1316C>G
ENST00000316623.10:c.8019C>G MANE Select	ENSP00000325527.5:p.Gly2673=
ENST00000674301.1:c.3185C>G	ENSP00000501333.1:n.3185C>G
ENST00000316623.9:c.8019C>G	ENSP00000325527.5:p.Gly2673=
ENST00000559133.5:c.3388C>G
ENST00000561429.1:n.274C>G
NM_000138.4:c.8019C>G , LRG_778t1:c.8019C>G	NP_000129.3:p.Gly2673=
NM_000138.5:c.8019C>G MANE Select	NP_000129.3:p.Gly2673=