Canonical Allele Identifier: CA392337368

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437918C>A , CM000677.2:g.48437918C>A	GRCh38
NC_000015.9:g.48730115C>A , CM000677.1:g.48730115C>A	GRCh37
NC_000015.8:g.46517407C>A	NCBI36
NG_008805.2:g.212871G>T , LRG_778:g.212871G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6164-1G>T MANE Select	NP_000129.3:n.6164-1G>T
ENST00000316623.10:c.6164-1G>T MANE Select	ENSP00000325527.5:n.6164-1G>T
NM_000138.4:c.6164-1G>T , LRG_778t1:c.6164-1G>T	NP_000129.3:n.6164-1G>T
ENST00000316623.9:c.6164-1G>T	ENSP00000325527.5:n.6164-1G>T
ENST00000537463.6:c.*1927-1G>T	ENSP00000440294.2:n.*1927-1G>T
ENST00000559133.5:c.1471-1G>T
ENST00000559133.6:c.6164-1G>T	ENSP00000453958.2:n.6164-1G>T
ENST00000560820.1:n.284-1G>T
ENST00000674301.1:c.1163-1G>T	ENSP00000501333.1:n.1163-1G>T
ENST00000674301.2:c.6164-1G>T	ENSP00000501333.2:n.6164-1G>T