Canonical Allele Identifier: CA392333578

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432950A>C , CM000677.2:g.48432950A>C	GRCh38
NC_000015.9:g.48725147A>C , CM000677.1:g.48725147A>C	GRCh37
NC_000015.8:g.46512439A>C	NCBI36
NG_008805.2:g.217839T>G , LRG_778:g.217839T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6655T>G MANE Select	NP_000129.3:p.Phe2219Val
ENST00000316623.10:c.6655T>G MANE Select	ENSP00000325527.5:p.Phe2219Val
NM_000138.4:c.6655T>G , LRG_778t1:c.6655T>G	NP_000129.3:p.Phe2219Val
ENST00000316623.9:c.6655T>G	ENSP00000325527.5:p.Phe2219Val
ENST00000537463.6:c.*2418T>G	ENSP00000440294.2:n.*2418T>G
ENST00000559133.5:c.1962T>G
ENST00000559133.6:c.6655T>G	ENSP00000453958.2:p.Phe2219Val
ENST00000674301.1:c.1759T>G	ENSP00000501333.1:n.1759T>G
ENST00000674301.2:c.*106T>G	ENSP00000501333.2:n.*106T>G
ENST00000682170.1:n.264T>G