Canonical Allele Identifier: CA392332181

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48722910C>A (hg19) ; chr15:g.48430713C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430713C>A , CM000677.2:g.48430713C>A	GRCh38
NC_000015.9:g.48722910C>A , CM000677.1:g.48722910C>A	GRCh37
NC_000015.8:g.46510202C>A	NCBI36
NG_008805.2:g.220076G>T , LRG_778:g.220076G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6829G>T	ENSP00000453958.2:p.Gly2277Ter
ENST00000674301.2:c.*280G>T	ENSP00000501333.2:n.*280G>T
ENST00000682170.1:n.438G>T
ENST00000316623.10:c.6829G>T MANE Select	ENSP00000325527.5:p.Gly2277Ter
ENST00000674301.1:c.1933G>T	ENSP00000501333.1:n.1933G>T
ENST00000316623.9:c.6829G>T	ENSP00000325527.5:p.Gly2277Ter
ENST00000559133.5:c.2136G>T
ENST00000560720.1:n.116G>T
NM_000138.4:c.6829G>T , LRG_778t1:c.6829G>T	NP_000129.3:p.Gly2277Ter
NM_000138.5:c.6829G>T MANE Select	NP_000129.3:p.Gly2277Ter