Canonical Allele Identifier: CA392338114

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48733954C>A (hg19) ; chr15:g.48441757C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441757C>A , CM000677.2:g.48441757C>A	GRCh38
NC_000015.9:g.48733954C>A , CM000677.1:g.48733954C>A	GRCh37
NC_000015.8:g.46521246C>A	NCBI36
NG_008805.2:g.209032G>T , LRG_778:g.209032G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6127G>T	ENSP00000453958.2:p.Gly2043Trp
ENST00000674301.2:c.6127G>T	ENSP00000501333.2:p.Gly2043Trp
ENST00000316623.10:c.6127G>T MANE Select	ENSP00000325527.5:p.Gly2043Trp
ENST00000674301.1:c.1126G>T	ENSP00000501333.1:p.Gly376Trp
ENST00000316623.9:c.6127G>T	ENSP00000325527.5:p.Gly2043Trp
ENST00000537463.6:c.*1890G>T	ENSP00000440294.2:n.*1890G>T
ENST00000559133.5:c.1434G>T
ENST00000560820.1:n.247G>T
NM_000138.4:c.6127G>T , LRG_778t1:c.6127G>T	NP_000129.3:p.Gly2043Trp
NM_000138.5:c.6127G>T MANE Select	NP_000129.3:p.Gly2043Trp