Canonical Allele Identifier: CA392320195

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703567C>A (hg19) ; chr15:g.48411370C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411370C>A , CM000677.2:g.48411370C>A	GRCh38
NC_000015.9:g.48703567C>A , CM000677.1:g.48703567C>A	GRCh37
NC_000015.8:g.46490859C>A	NCBI36
NG_008805.2:g.239419G>T , LRG_778:g.239419G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1044G>T	ENSP00000453958.2:n.*1044G>T
ENST00000674301.2:c.*1749G>T	ENSP00000501333.2:n.*1749G>T
ENST00000682158.1:n.1617G>T
ENST00000682170.1:n.2417G>T
ENST00000682767.1:n.1533G>T
ENST00000316623.10:c.8236G>T MANE Select	ENSP00000325527.5:p.Glu2746Ter
ENST00000674301.1:c.3402G>T	ENSP00000501333.1:n.3402G>T
ENST00000316623.9:c.8236G>T	ENSP00000325527.5:p.Glu2746Ter
ENST00000559133.5:c.3605G>T
ENST00000561429.1:n.491G>T
NM_000138.4:c.8236G>T , LRG_778t1:c.8236G>T	NP_000129.3:p.Glu2746Ter
NM_000138.5:c.8236G>T MANE Select	NP_000129.3:p.Glu2746Ter