Canonical Allele Identifier: CA392333221

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48725073C>G (hg19) ; chr15:g.48432876C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432876C>G , CM000677.2:g.48432876C>G	GRCh38
NC_000015.9:g.48725073C>G , CM000677.1:g.48725073C>G	GRCh37
NC_000015.8:g.46512365C>G	NCBI36
NG_008805.2:g.217913G>C , LRG_778:g.217913G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6729G>C	ENSP00000453958.2:p.Arg2243Ser
ENST00000674301.2:c.*180G>C	ENSP00000501333.2:n.*180G>C
ENST00000682170.1:n.338G>C
ENST00000316623.10:c.6729G>C MANE Select	ENSP00000325527.5:p.Arg2243Ser
ENST00000674301.1:c.1833G>C	ENSP00000501333.1:n.1833G>C
ENST00000316623.9:c.6729G>C	ENSP00000325527.5:p.Arg2243Ser
ENST00000537463.6:c.*2492G>C	ENSP00000440294.2:n.*2492G>C
ENST00000559133.5:c.2036G>C
ENST00000560720.1:n.16G>C
NM_000138.4:c.6729G>C , LRG_778t1:c.6729G>C	NP_000129.3:p.Arg2243Ser
NM_000138.5:c.6729G>C MANE Select	NP_000129.3:p.Arg2243Ser