Canonical Allele Identifier: CA2573150931

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437317C>T , CM000677.2:g.48437317C>T	GRCh38
NC_000015.9:g.48729514C>T , CM000677.1:g.48729514C>T	GRCh37
NC_000015.8:g.46516806C>T	NCBI36
NG_008805.2:g.213472G>A , LRG_778:g.213472G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6379+5G>A MANE Select	NP_000129.3:n.6379+5G>A
ENST00000316623.10:c.6379+5G>A MANE Select	ENSP00000325527.5:n.6379+5G>A
NM_000138.4:c.6379+5G>A , LRG_778t1:c.6379+5G>A	NP_000129.3:n.6379+5G>A
ENST00000316623.9:c.6379+5G>A	ENSP00000325527.5:n.6379+5G>A
ENST00000537463.6:c.*2142+5G>A	ENSP00000440294.2:n.*2142+5G>A
ENST00000559133.5:c.1686+5G>A
ENST00000559133.6:c.6379+5G>A	ENSP00000453958.2:n.6379+5G>A
ENST00000674301.1:c.1378+5G>A	ENSP00000501333.1:n.1378+5G>A
ENST00000674301.2:c.6379+5G>A	ENSP00000501333.2:n.6379+5G>A