Canonical Allele Identifier: CA15998589

Gene: FBLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45557854G>A , CM000684.2:g.45557854G>A	GRCh38
NC_000022.10:g.45953734G>A , CM000684.1:g.45953734G>A	GRCh37
NC_000022.9:g.44332398G>A	NCBI36
NG_023308.2:g.60016G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006486.3:c.1697+7239G>A MANE Select	NP_006477.3:n.1697+7239G>A
ENST00000327858.11:c.1697+7239G>A MANE Select	ENSP00000331544.6:n.1697+7239G>A
NM_001996.3:c.1698-5058G>A	NP_001987.2:n.1698-5058G>A
NM_001996.4:c.1698-5058G>A	NP_001987.3:n.1698-5058G>A
NM_006485.3:c.1698-7030G>A	NP_006476.2:n.1698-7030G>A
NM_006485.4:c.1698-7030G>A	NP_006476.3:n.1698-7030G>A
NM_006486.2:c.1697+7239G>A	NP_006477.2:n.1697+7239G>A
NM_006487.2:c.1698-217G>A	NP_006478.2:n.1698-217G>A
NM_006487.3:c.1698-217G>A	NP_006478.3:n.1698-217G>A
ENST00000262722.11:c.1698-5058G>A	ENSP00000262722.7:n.1698-5058G>A
ENST00000327858.10:c.1697+7239G>A	ENSP00000331544.6:n.1697+7239G>A
ENST00000340923.9:c.1698-217G>A	ENSP00000342212.5:n.1698-217G>A
ENST00000402984.7:c.1812-5058G>A	ENSP00000385521.3:n.1812-5058G>A
ENST00000442170.6:c.1698-7030G>A	ENSP00000393812.2:n.1698-7030G>A