Canonical Allele Identifier: CA2175504043

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437922A>G , CM000677.2:g.48437922A>G	GRCh38
NC_000015.9:g.48730119A>G , CM000677.1:g.48730119A>G	GRCh37
NC_000015.8:g.46517411A>G	NCBI36
NG_008805.2:g.212867T>C , LRG_778:g.212867T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6164-5T>C MANE Select	NP_000129.3:n.6164-5T>C
ENST00000316623.10:c.6164-5T>C MANE Select	ENSP00000325527.5:n.6164-5T>C
NM_000138.4:c.6164-5T>C , LRG_778t1:c.6164-5T>C	NP_000129.3:n.6164-5T>C
ENST00000316623.9:c.6164-5T>C	ENSP00000325527.5:n.6164-5T>C
ENST00000537463.6:c.*1927-5T>C	ENSP00000440294.2:n.*1927-5T>C
ENST00000559133.5:c.1471-5T>C
ENST00000559133.6:c.6164-5T>C	ENSP00000453958.2:n.6164-5T>C
ENST00000560820.1:n.284-5T>C
ENST00000674301.1:c.1163-5T>C	ENSP00000501333.1:n.1163-5T>C
ENST00000674301.2:c.6164-5T>C	ENSP00000501333.2:n.6164-5T>C