Canonical Allele Identifier: CA392323848

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48776068C>G (hg19) ; chr15:g.48483871C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48483871C>G , CM000677.2:g.48483871C>G	GRCh38
NC_000015.9:g.48776068C>G , CM000677.1:g.48776068C>G	GRCh37
NC_000015.8:g.46563360C>G	NCBI36
NG_008805.2:g.166918G>C , LRG_778:g.166918G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.3785G>C	ENSP00000453958.2:p.Arg1262Thr
ENST00000674301.2:c.3785G>C	ENSP00000501333.2:p.Arg1262Thr
ENST00000684448.1:n.2459G>C
ENST00000316623.10:c.3785G>C MANE Select	ENSP00000325527.5:p.Arg1262Thr
ENST00000316623.9:c.3785G>C	ENSP00000325527.5:p.Arg1262Thr
ENST00000537463.6:c.637-9221G>C	ENSP00000440294.2:n.637-9221G>C
NM_000138.4:c.3785G>C , LRG_778t1:c.3785G>C	NP_000129.3:p.Arg1262Thr
NM_000138.5:c.3785G>C MANE Select	NP_000129.3:p.Arg1262Thr