Canonical Allele Identifier: CA14929914

Gene: FBLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45533511G>A , CM000684.2:g.45533511G>A	GRCh38
NC_000022.10:g.45929391G>A , CM000684.1:g.45929391G>A	GRCh37
NC_000022.9:g.44308055G>A	NCBI36
NG_023308.2:g.35673G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006486.3:c.647-250G>A MANE Select	NP_006477.3:n.647-250G>A
ENST00000327858.11:c.647-250G>A MANE Select	ENSP00000331544.6:n.647-250G>A
NM_001996.3:c.647-250G>A	NP_001987.2:n.647-250G>A
NM_001996.4:c.647-250G>A	NP_001987.3:n.647-250G>A
NM_006485.3:c.647-250G>A	NP_006476.2:n.647-250G>A
NM_006485.4:c.647-250G>A	NP_006476.3:n.647-250G>A
NM_006486.2:c.647-250G>A	NP_006477.2:n.647-250G>A
NM_006487.2:c.647-250G>A	NP_006478.2:n.647-250G>A
NM_006487.3:c.647-250G>A	NP_006478.3:n.647-250G>A
ENST00000262722.11:c.647-250G>A	ENSP00000262722.7:n.647-250G>A
ENST00000327858.10:c.647-250G>A	ENSP00000331544.6:n.647-250G>A
ENST00000340923.9:c.647-250G>A	ENSP00000342212.5:n.647-250G>A
ENST00000402984.7:c.761-250G>A	ENSP00000385521.3:n.761-250G>A
ENST00000437711.1:c.330-250G>A
ENST00000442170.6:c.647-250G>A	ENSP00000393812.2:n.647-250G>A
ENST00000451475.5:c.407-250G>A	ENSP00000415160.1:n.407-250G>A
ENST00000460538.5:n.273-250G>A
ENST00000465578.1:n.15-250G>A