Canonical Allele Identifier: CA15998007

Gene: FBLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45533320T>C , CM000684.2:g.45533320T>C	GRCh38
NC_000022.10:g.45929200T>C , CM000684.1:g.45929200T>C	GRCh37
NC_000022.9:g.44307864T>C	NCBI36
NG_023308.2:g.35482T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006486.3:c.646+156T>C MANE Select	NP_006477.3:n.646+156T>C
ENST00000327858.11:c.646+156T>C MANE Select	ENSP00000331544.6:n.646+156T>C
NM_001996.3:c.646+156T>C	NP_001987.2:n.646+156T>C
NM_001996.4:c.646+156T>C	NP_001987.3:n.646+156T>C
NM_006485.3:c.646+156T>C	NP_006476.2:n.646+156T>C
NM_006485.4:c.646+156T>C	NP_006476.3:n.646+156T>C
NM_006486.2:c.646+156T>C	NP_006477.2:n.646+156T>C
NM_006487.2:c.646+156T>C	NP_006478.2:n.646+156T>C
NM_006487.3:c.646+156T>C	NP_006478.3:n.646+156T>C
ENST00000262722.11:c.646+156T>C	ENSP00000262722.7:n.646+156T>C
ENST00000327858.10:c.646+156T>C	ENSP00000331544.6:n.646+156T>C
ENST00000340923.9:c.646+156T>C	ENSP00000342212.5:n.646+156T>C
ENST00000402984.7:c.760+156T>C	ENSP00000385521.3:n.760+156T>C
ENST00000437711.1:c.329+156T>C
ENST00000442170.6:c.646+156T>C	ENSP00000393812.2:n.646+156T>C
ENST00000451475.5:c.406+156T>C	ENSP00000415160.1:n.406+156T>C
ENST00000460538.5:n.272+156T>C
ENST00000465578.1:n.14+156T>C