Canonical Allele Identifier: CA10286749

Gene: FBLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45535382C>T , CM000684.2:g.45535382C>T	GRCh38
NC_000022.10:g.45931262C>T , CM000684.1:g.45931262C>T	GRCh37
NC_000022.9:g.44309926C>T	NCBI36
NG_023308.2:g.37544C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327858.11:c.922+45C>T MANE Select	ENSP00000331544.6:n.922+45C>T
ENST00000262722.11:c.922+45C>T	ENSP00000262722.7:n.922+45C>T
ENST00000327858.10:c.922+45C>T	ENSP00000331544.6:n.922+45C>T
ENST00000340923.9:c.922+45C>T	ENSP00000342212.5:n.922+45C>T
ENST00000402984.7:c.1036+45C>T	ENSP00000385521.3:n.1036+45C>T
ENST00000437711.1:c.549+45C>T
ENST00000442170.6:c.922+45C>T	ENSP00000393812.2:n.922+45C>T
ENST00000460538.5:n.492+45C>T
ENST00000465578.1:n.279C>T
ENST00000484531.1:n.301C>T
NM_001996.3:c.922+45C>T	NP_001987.2:n.922+45C>T
NM_006485.3:c.922+45C>T	NP_006476.2:n.922+45C>T
NM_006486.2:c.922+45C>T	NP_006477.2:n.922+45C>T
NM_006487.2:c.922+45C>T	NP_006478.2:n.922+45C>T
NM_006486.3:c.922+45C>T MANE Select	NP_006477.3:n.922+45C>T
NM_001996.4:c.922+45C>T	NP_001987.3:n.922+45C>T
NM_006485.4:c.922+45C>T	NP_006476.3:n.922+45C>T
NM_006487.3:c.922+45C>T	NP_006478.3:n.922+45C>T