Canonical Allele Identifier: CA514891480

Gene: FBLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45543513C>G , CM000684.2:g.45543513C>G	GRCh38
NC_000022.10:g.45939393C>G , CM000684.1:g.45939393C>G	GRCh37
NC_000022.9:g.44318057C>G	NCBI36
NG_023308.2:g.45675C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327858.11:c.1308C>G MANE Select	ENSP00000331544.6:p.Gly436=
ENST00000262722.11:c.1308C>G	ENSP00000262722.7:p.Gly436=
ENST00000327858.10:c.1308C>G	ENSP00000331544.6:p.Gly436=
ENST00000340923.9:c.1308C>G	ENSP00000342212.5:p.Gly436=
ENST00000402984.7:c.1422C>G	ENSP00000385521.3:p.Gly474=
ENST00000442170.6:c.1308C>G	ENSP00000393812.2:p.Gly436=
ENST00000476366.1:n.386C>G
NM_001996.3:c.1308C>G	NP_001987.2:p.Gly436=
NM_006485.3:c.1308C>G	NP_006476.2:p.Gly436=
NM_006486.2:c.1308C>G	NP_006477.2:p.Gly436=
NM_006487.2:c.1308C>G	NP_006478.2:p.Gly436=
NM_006486.3:c.1308C>G MANE Select	NP_006477.3:p.Gly436=
NM_001996.4:c.1308C>G	NP_001987.3:p.Gly436=
NM_006485.4:c.1308C>G	NP_006476.3:p.Gly436=
NM_006487.3:c.1308C>G	NP_006478.3:p.Gly436=