Canonical Allele Identifier: CA392325845

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48714158A>G (hg19) ; chr15:g.48421961A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421961A>G , CM000677.2:g.48421961A>G	GRCh38
NC_000015.9:g.48714158A>G , CM000677.1:g.48714158A>G	GRCh37
NC_000015.8:g.46501450A>G	NCBI36
NG_008805.2:g.228828T>C , LRG_778:g.228828T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*369T>C	ENSP00000453958.2:n.*369T>C
ENST00000674301.2:c.*1074T>C	ENSP00000501333.2:n.*1074T>C
ENST00000682170.1:n.1742T>C
ENST00000682767.1:n.858T>C
ENST00000316623.10:c.7561T>C MANE Select	ENSP00000325527.5:p.Ser2521Pro
ENST00000674301.1:c.2727T>C	ENSP00000501333.1:n.2727T>C
ENST00000316623.9:c.7561T>C	ENSP00000325527.5:p.Ser2521Pro
ENST00000559133.5:c.2930T>C
NM_000138.4:c.7561T>C , LRG_778t1:c.7561T>C	NP_000129.3:p.Ser2521Pro
NM_000138.5:c.7561T>C MANE Select	NP_000129.3:p.Ser2521Pro