Canonical Allele Identifier: CA509638949

Gene: PLCB1

Linked Data

• ClinVar Variation Id: 2164433
• ClinVar RCV Id: RCV003082099
• gnomAD v4: 20-8737060-A-G
• MyVariant Identifiers: chr20:g.8717707A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.8737060A>G , CM000682.2:g.8737060A>G	GRCh38
NC_000020.10:g.8717707A>G , CM000682.1:g.8717707A>G	GRCh37
NC_000020.9:g.8665707A>G	NCBI36
NG_028168.1:g.609412A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338037.11:c.2076A>G MANE Select	ENSP00000338185.6:p.Lys692=
ENST00000635830.1:n.2147A>G
ENST00000636825.1:n.1940A>G
ENST00000637919.1:c.1773A>G	ENSP00000490862.1:p.Lys591=
ENST00000338037.10:c.2076A>G	ENSP00000338185.6:p.Lys692=
ENST00000378637.6:c.2076A>G	ENSP00000367904.2:p.Lys692=
ENST00000378641.7:c.2076A>G	ENSP00000367908.3:p.Lys692=
ENST00000439627.2:c.33A>G	ENSP00000391162.1:p.Lys11=
ENST00000487210.5:c.1298A>G
ENST00000494924.2:n.1228A>G
ENST00000612075.4:c.1836A>G	ENSP00000479997.1:p.Lys612=
ENST00000617005.4:c.1836A>G	ENSP00000477664.1:p.Lys612=
ENST00000625874.2:c.1773A>G	ENSP00000486301.1:p.Lys591=
ENST00000626966.2:c.1773A>G	ENSP00000487075.1:p.Lys591=
NM_015192.3:c.2076A>G	NP_056007.1:p.Lys692=
NM_182734.2:c.2076A>G	NP_877398.1:p.Lys692=
XM_011529199.1:c.2076A>G	XP_011527501.1:p.Lys692=
XM_011529200.1:c.1860A>G	XP_011527502.1:p.Lys620=
XM_011529201.1:c.1773A>G	XP_011527503.1:p.Lys591=
XM_011529203.1:c.303A>G	XP_011527505.1:p.Lys101=
NM_015192.4:c.2076A>G MANE Select	NP_056007.1:p.Lys692=
NM_182734.3:c.2076A>G	NP_877398.1:p.Lys692=