Canonical Allele Identifier: CA2651878840
Gene: PLCB1 HGNC NCBI

Linked Data

gnomAD v4: 20-8737015-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.8737015A>G , CM000682.2:g.8737015A>G GRCh38
NC_000020.10:g.8717662A>G , CM000682.1:g.8717662A>G GRCh37
NC_000020.9:g.8665662A>G NCBI36
NG_028168.1:g.609367A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000338037.11:c.2044-13A>G MANE Select ENSP00000338185.6:n.2044-13A>G
ENST00000635830.1:n.2115-13A>G
ENST00000636825.1:n.1908-13A>G
ENST00000637919.1:c.1741-13A>G ENSP00000490862.1:n.1741-13A>G
ENST00000338037.10:c.2044-13A>G ENSP00000338185.6:n.2044-13A>G
ENST00000378637.6:c.2044-13A>G ENSP00000367904.2:n.2044-13A>G
ENST00000378641.7:c.2044-13A>G ENSP00000367908.3:n.2044-13A>G
ENST00000487210.5:c.1266-13A>G
ENST00000494924.2:n.1196-13A>G
ENST00000612075.4:c.1804-13A>G ENSP00000479997.1:n.1804-13A>G
ENST00000617005.4:c.1804-13A>G ENSP00000477664.1:n.1804-13A>G
ENST00000625874.2:c.1741-13A>G ENSP00000486301.1:n.1741-13A>G
ENST00000626966.2:c.1741-13A>G ENSP00000487075.1:n.1741-13A>G
NM_015192.3:c.2044-13A>G NP_056007.1:n.2044-13A>G
NM_182734.2:c.2044-13A>G NP_877398.1:n.2044-13A>G
XM_011529199.1:c.2044-13A>G XP_011527501.1:n.2044-13A>G
XM_011529200.1:c.1828-13A>G XP_011527502.1:n.1828-13A>G
XM_011529201.1:c.1741-13A>G XP_011527503.1:n.1741-13A>G
XM_011529203.1:c.271-13A>G XP_011527505.1:n.271-13A>G
NM_015192.4:c.2044-13A>G MANE Select NP_056007.1:n.2044-13A>G
NM_182734.3:c.2044-13A>G NP_877398.1:n.2044-13A>G