Canonical Allele Identifier: CA392327974

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48717660T>G (hg19) ; chr15:g.48425463T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425463T>G , CM000677.2:g.48425463T>G	GRCh38
NC_000015.9:g.48717660T>G , CM000677.1:g.48717660T>G	GRCh37
NC_000015.8:g.46504952T>G	NCBI36
NG_008805.2:g.225326A>C , LRG_778:g.225326A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*167A>C	ENSP00000453958.2:n.*167A>C
ENST00000674301.2:c.*872A>C	ENSP00000501333.2:n.*872A>C
ENST00000682170.1:n.1540A>C
ENST00000682767.1:n.656A>C
ENST00000316623.10:c.7359A>C MANE Select	ENSP00000325527.5:p.Lys2453Asn
ENST00000674301.1:c.2525A>C	ENSP00000501333.1:n.2525A>C
ENST00000316623.9:c.7359A>C	ENSP00000325527.5:p.Lys2453Asn
ENST00000559133.5:c.2728A>C
NM_000138.4:c.7359A>C , LRG_778t1:c.7359A>C	NP_000129.3:p.Lys2453Asn
NM_000138.5:c.7359A>C MANE Select	NP_000129.3:p.Lys2453Asn