Canonical Allele Identifier: CA311636863
Gene: PLCB1 HGNC NCBI

Linked Data

dbSNP Id: rs2745761
gnomAD v2: 20-8277943-G-C
gnomAD v3: 20-8297296-G-C
gnomAD v4: 20-8297296-G-C

Genomic Alleles

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

Transcript Alleles

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