Canonical Allele Identifier: CA10286461

Gene: FBLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45518812T>G , CM000684.2:g.45518812T>G	GRCh38
NC_000022.10:g.45914692T>G , CM000684.1:g.45914692T>G	GRCh37
NC_000022.9:g.44293356T>G	NCBI36
NG_023308.2:g.20974T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006486.3:c.185+25T>G MANE Select	NP_006477.3:n.185+25T>G
ENST00000327858.11:c.185+25T>G MANE Select	ENSP00000331544.6:n.185+25T>G
NM_001996.3:c.185+25T>G	NP_001987.2:n.185+25T>G
NM_001996.4:c.185+25T>G	NP_001987.3:n.185+25T>G
NM_006485.3:c.185+25T>G	NP_006476.2:n.185+25T>G
NM_006485.4:c.185+25T>G	NP_006476.3:n.185+25T>G
NM_006486.2:c.185+25T>G	NP_006477.2:n.185+25T>G
NM_006487.2:c.185+25T>G	NP_006478.2:n.185+25T>G
NM_006487.3:c.185+25T>G	NP_006478.3:n.185+25T>G
ENST00000262722.11:c.185+25T>G	ENSP00000262722.7:n.185+25T>G
ENST00000327858.10:c.185+25T>G	ENSP00000331544.6:n.185+25T>G
ENST00000340923.9:c.185+25T>G	ENSP00000342212.5:n.185+25T>G
ENST00000402984.7:c.185+25T>G	ENSP00000385521.3:n.185+25T>G
ENST00000411478.5:c.209+25T>G	ENSP00000415289.1:n.209+25T>G
ENST00000439835.1:c.551+25T>G	ENSP00000395329.2:n.551+25T>G
ENST00000442170.6:c.185+25T>G	ENSP00000393812.2:n.185+25T>G
ENST00000445110.5:c.59+25T>G	ENSP00000404024.1:n.59+25T>G
ENST00000451475.5:c.5+25T>G	ENSP00000415160.1:n.5+25T>G
ENST00000454279.5:c.59+25T>G	ENSP00000414584.1:n.59+25T>G
ENST00000455233.5:c.185+25T>G	ENSP00000402963.1:n.185+25T>G