Canonical Allele Identifier: CA392351677

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48758017G>C (hg19) ; chr15:g.48465820G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48465820G>C , CM000677.2:g.48465820G>C	GRCh38
NC_000015.9:g.48758017G>C , CM000677.1:g.48758017G>C	GRCh37
NC_000015.8:g.46545309G>C	NCBI36
NG_008805.2:g.184969C>G , LRG_778:g.184969C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.4786C>G	ENSP00000453958.2:p.Arg1596Gly
ENST00000674301.2:c.4786C>G	ENSP00000501333.2:p.Arg1596Gly
ENST00000684448.1:n.3460C>G
ENST00000316623.10:c.4786C>G MANE Select	ENSP00000325527.5:p.Arg1596Gly
ENST00000316623.9:c.4786C>G	ENSP00000325527.5:p.Arg1596Gly
ENST00000537463.6:c.*549C>G	ENSP00000440294.2:n.*549C>G
ENST00000559133.5:c.93C>G
NM_000138.4:c.4786C>G , LRG_778t1:c.4786C>G	NP_000129.3:p.Arg1596Gly
NM_000138.5:c.4786C>G MANE Select	NP_000129.3:p.Arg1596Gly