Canonical Allele Identifier: CA392318920

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703338G>C (hg19) ; chr15:g.48411141G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411141G>C , CM000677.2:g.48411141G>C	GRCh38
NC_000015.9:g.48703338G>C , CM000677.1:g.48703338G>C	GRCh37
NC_000015.8:g.46490630G>C	NCBI36
NG_008805.2:g.239648C>G , LRG_778:g.239648C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1273C>G	ENSP00000453958.2:n.*1273C>G
ENST00000674301.2:c.*1978C>G	ENSP00000501333.2:n.*1978C>G
ENST00000682158.1:n.1846C>G
ENST00000682170.1:n.2646C>G
ENST00000682767.1:n.1762C>G
ENST00000316623.10:c.8465C>G MANE Select	ENSP00000325527.5:p.Pro2822Arg
ENST00000674301.1:c.3631C>G	ENSP00000501333.1:n.3631C>G
ENST00000316623.9:c.8465C>G	ENSP00000325527.5:p.Pro2822Arg
ENST00000559133.5:c.3834C>G
NM_000138.4:c.8465C>G , LRG_778t1:c.8465C>G	NP_000129.3:p.Pro2822Arg
NM_000138.5:c.8465C>G MANE Select	NP_000129.3:p.Pro2822Arg