Canonical Allele Identifier: CA311636862
Gene: PLCB1 HGNC NCBI

Linked Data

dbSNP Id: rs2745761
gnomAD v3: 20-8297296-G-A
gnomAD v4: 20-8297296-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.8297296G>A , CM000682.2:g.8297296G>A GRCh38
NC_000020.10:g.8277943G>A , CM000682.1:g.8277943G>A GRCh37
NC_000020.9:g.8225943G>A NCBI36
NG_028168.1:g.169648G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000338037.11:c.178-74086G>A MANE Select ENSP00000338185.6:n.178-74086G>A
ENST00000636319.1:c.178-74086G>A ENSP00000490455.1:n.178-74086G>A
ENST00000637204.1:c.60-74086G>A
ENST00000637919.1:c.-126-74086G>A ENSP00000490862.1:n.-126-74086G>A
ENST00000338037.10:c.178-74086G>A ENSP00000338185.6:n.178-74086G>A
ENST00000378637.6:c.178-74086G>A ENSP00000367904.2:n.178-74086G>A
ENST00000378641.7:c.178-74086G>A ENSP00000367908.3:n.178-74086G>A
ENST00000404098.6:c.178-74086G>A ENSP00000384001.3:n.178-74086G>A
ENST00000625874.2:c.-126-74086G>A ENSP00000486301.1:n.-126-74086G>A
ENST00000626161.1:n.314-74086G>A
ENST00000629992.2:c.178-74086G>A ENSP00000486531.1:n.178-74086G>A
ENST00000630495.2:c.-126-74086G>A ENSP00000486655.1:n.-126-74086G>A
ENST00000630757.1:n.73-74086G>A
NM_015192.3:c.178-74086G>A NP_056007.1:n.178-74086G>A
NM_182734.2:c.178-74086G>A NP_877398.1:n.178-74086G>A
XM_011529199.1:c.178-74086G>A XP_011527501.1:n.178-74086G>A
XM_011529202.1:c.178-74086G>A XP_011527504.1:n.178-74086G>A
NM_015192.4:c.178-74086G>A MANE Select NP_056007.1:n.178-74086G>A
NM_182734.3:c.178-74086G>A NP_877398.1:n.178-74086G>A