Canonical Allele Identifier: CA144573

Gene: FBLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45542278G>T , CM000684.2:g.45542278G>T	GRCh38
NC_000022.10:g.45938158G>T , CM000684.1:g.45938158G>T	GRCh37
NC_000022.9:g.44316822G>T	NCBI36
NG_023308.2:g.44440G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327858.11:c.1190G>T MANE Select	ENSP00000331544.6:p.Cys397Phe
ENST00000262722.11:c.1190G>T	ENSP00000262722.7:p.Cys397Phe
ENST00000327858.10:c.1190G>T	ENSP00000331544.6:p.Cys397Phe
ENST00000340923.9:c.1190G>T	ENSP00000342212.5:p.Cys397Phe
ENST00000402984.7:c.1304G>T	ENSP00000385521.3:p.Cys435Phe
ENST00000442170.6:c.1190G>T	ENSP00000393812.2:p.Cys397Phe
ENST00000476366.1:n.268G>T
NM_001996.3:c.1190G>T	NP_001987.2:p.Cys397Phe
NM_006485.3:c.1190G>T	NP_006476.2:p.Cys397Phe
NM_006486.2:c.1190G>T	NP_006477.2:p.Cys397Phe
NM_006487.2:c.1190G>T	NP_006478.2:p.Cys397Phe
NM_006486.3:c.1190G>T MANE Select	NP_006477.3:p.Cys397Phe
NM_001996.4:c.1190G>T	NP_001987.3:p.Cys397Phe
NM_006485.4:c.1190G>T	NP_006476.3:p.Cys397Phe
NM_006487.3:c.1190G>T	NP_006478.3:p.Cys397Phe