Canonical Allele Identifier: CA15997998

Gene: FBLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45525751C>T , CM000684.2:g.45525751C>T	GRCh38
NC_000022.10:g.45921631C>T , CM000684.1:g.45921631C>T	GRCh37
NC_000022.9:g.44300295C>T	NCBI36
NG_023308.2:g.27913C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006486.3:c.321+73C>T MANE Select	NP_006477.3:n.321+73C>T
ENST00000327858.11:c.321+73C>T MANE Select	ENSP00000331544.6:n.321+73C>T
NM_001996.3:c.321+73C>T	NP_001987.2:n.321+73C>T
NM_001996.4:c.321+73C>T	NP_001987.3:n.321+73C>T
NM_006485.3:c.321+73C>T	NP_006476.2:n.321+73C>T
NM_006485.4:c.321+73C>T	NP_006476.3:n.321+73C>T
NM_006486.2:c.321+73C>T	NP_006477.2:n.321+73C>T
NM_006487.2:c.321+73C>T	NP_006478.2:n.321+73C>T
NM_006487.3:c.321+73C>T	NP_006478.3:n.321+73C>T
ENST00000262722.11:c.321+73C>T	ENSP00000262722.7:n.321+73C>T
ENST00000327858.10:c.321+73C>T	ENSP00000331544.6:n.321+73C>T
ENST00000340923.9:c.321+73C>T	ENSP00000342212.5:n.321+73C>T
ENST00000402984.7:c.435+73C>T	ENSP00000385521.3:n.435+73C>T
ENST00000411478.5:c.345+73C>T	ENSP00000415289.1:n.345+73C>T
ENST00000437711.1:c.4+73C>T
ENST00000442170.6:c.321+73C>T	ENSP00000393812.2:n.321+73C>T
ENST00000451475.5:c.141+73C>T	ENSP00000415160.1:n.141+73C>T
ENST00000454279.5:c.195+73C>T	ENSP00000414584.1:n.195+73C>T
ENST00000455233.5:c.321+73C>T	ENSP00000402963.1:n.321+73C>T