Canonical Allele Identifier: CA392335243

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48726896A>C (hg19) ; chr15:g.48434699A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434699A>C , CM000677.2:g.48434699A>C	GRCh38
NC_000015.9:g.48726896A>C , CM000677.1:g.48726896A>C	GRCh37
NC_000015.8:g.46514188A>C	NCBI36
NG_008805.2:g.216090T>G , LRG_778:g.216090T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6511T>G	ENSP00000453958.2:p.Ser2171Ala
ENST00000674301.2:c.6511T>G	ENSP00000501333.2:p.Ser2171Ala
ENST00000682170.1:n.120T>G
ENST00000316623.10:c.6511T>G MANE Select	ENSP00000325527.5:p.Ser2171Ala
ENST00000674301.1:c.1510T>G	ENSP00000501333.1:p.Ser504Ala
ENST00000316623.9:c.6511T>G	ENSP00000325527.5:p.Ser2171Ala
ENST00000537463.6:c.*2274T>G	ENSP00000440294.2:n.*2274T>G
ENST00000559133.5:c.1818T>G
NM_000138.4:c.6511T>G , LRG_778t1:c.6511T>G	NP_000129.3:p.Ser2171Ala
NM_000138.5:c.6511T>G MANE Select	NP_000129.3:p.Ser2171Ala