Canonical Allele Identifier: CA392340069

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48737641G>C (hg19) ; chr15:g.48445444G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445444G>C , CM000677.2:g.48445444G>C	GRCh38
NC_000015.9:g.48737641G>C , CM000677.1:g.48737641G>C	GRCh37
NC_000015.8:g.46524933G>C	NCBI36
NG_008805.2:g.205345C>G , LRG_778:g.205345C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5849C>G	ENSP00000453958.2:p.Thr1950Arg
ENST00000674301.2:c.5849C>G	ENSP00000501333.2:p.Thr1950Arg
ENST00000684448.1:n.4523C>G
ENST00000316623.10:c.5849C>G MANE Select	ENSP00000325527.5:p.Thr1950Arg
ENST00000674301.1:c.848C>G	ENSP00000501333.1:p.Thr283Arg
ENST00000316623.9:c.5849C>G	ENSP00000325527.5:p.Thr1950Arg
ENST00000537463.6:c.*1612C>G	ENSP00000440294.2:n.*1612C>G
ENST00000559133.5:c.1156C>G
NM_000138.4:c.5849C>G , LRG_778t1:c.5849C>G	NP_000129.3:p.Thr1950Arg
NM_000138.5:c.5849C>G MANE Select	NP_000129.3:p.Thr1950Arg