Canonical Allele Identifier: CA325045705

Gene: FBLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45525661G>A , CM000684.2:g.45525661G>A	GRCh38
NC_000022.10:g.45921541G>A , CM000684.1:g.45921541G>A	GRCh37
NC_000022.9:g.44300205G>A	NCBI36
NG_023308.2:g.27823G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327858.11:c.304G>A MANE Select	ENSP00000331544.6:p.Glu102Lys
ENST00000262722.11:c.304G>A	ENSP00000262722.7:p.Glu102Lys
ENST00000327858.10:c.304G>A	ENSP00000331544.6:p.Glu102Lys
ENST00000340923.9:c.304G>A	ENSP00000342212.5:p.Glu102Lys
ENST00000402984.7:c.418G>A	ENSP00000385521.3:p.Glu140Lys
ENST00000411478.5:c.328G>A	ENSP00000415289.1:p.Glu110Lys
ENST00000442170.6:c.304G>A	ENSP00000393812.2:p.Glu102Lys
ENST00000445110.5:c.178G>A	ENSP00000404024.1:p.Glu60Lys
ENST00000451475.5:c.124G>A	ENSP00000415160.1:p.Glu42Lys
ENST00000454279.5:c.178G>A	ENSP00000414584.1:p.Glu60Lys
ENST00000455233.5:c.304G>A	ENSP00000402963.1:p.Glu102Lys
NM_001996.3:c.304G>A	NP_001987.2:p.Glu102Lys
NM_006485.3:c.304G>A	NP_006476.2:p.Glu102Lys
NM_006486.2:c.304G>A	NP_006477.2:p.Glu102Lys
NM_006487.2:c.304G>A	NP_006478.2:p.Glu102Lys
NM_006486.3:c.304G>A MANE Select	NP_006477.3:p.Glu102Lys
NM_001996.4:c.304G>A	NP_001987.3:p.Glu102Lys
NM_006485.4:c.304G>A	NP_006476.3:p.Glu102Lys
NM_006487.3:c.304G>A	NP_006478.3:p.Glu102Lys