Canonical Allele Identifier: CA392325856

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48714163T>G (hg19) ; chr15:g.48421966T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421966T>G , CM000677.2:g.48421966T>G	GRCh38
NC_000015.9:g.48714163T>G , CM000677.1:g.48714163T>G	GRCh37
NC_000015.8:g.46501455T>G	NCBI36
NG_008805.2:g.228823A>C , LRG_778:g.228823A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*364A>C	ENSP00000453958.2:n.*364A>C
ENST00000674301.2:c.*1069A>C	ENSP00000501333.2:n.*1069A>C
ENST00000682170.1:n.1737A>C
ENST00000682767.1:n.853A>C
ENST00000316623.10:c.7556A>C MANE Select	ENSP00000325527.5:p.His2519Pro
ENST00000674301.1:c.2722A>C	ENSP00000501333.1:n.2722A>C
ENST00000316623.9:c.7556A>C	ENSP00000325527.5:p.His2519Pro
ENST00000559133.5:c.2925A>C
NM_000138.4:c.7556A>C , LRG_778t1:c.7556A>C	NP_000129.3:p.His2519Pro
NM_000138.5:c.7556A>C MANE Select	NP_000129.3:p.His2519Pro