Canonical Allele Identifier: CA311261149

Gene: PLCB1

Linked Data

• ClinVar Variation Id: 951959
• ClinVar RCV Id: RCV001223972
• dbSNP Id: rs978185234
• gnomAD v3: 20-8737118-G-T
• gnomAD v4: 20-8737118-G-T
• MyVariant Identifiers: chr20:g.8717765G>T (hg19) ; chr20:g.8737118G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.8737118G>T , CM000682.2:g.8737118G>T	GRCh38
NC_000020.10:g.8717765G>T , CM000682.1:g.8717765G>T	GRCh37
NC_000020.9:g.8665765G>T	NCBI36
NG_028168.1:g.609470G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338037.11:c.2134G>T MANE Select	ENSP00000338185.6:p.Ala712Ser
ENST00000635830.1:n.2205G>T
ENST00000636825.1:n.1998G>T
ENST00000637919.1:c.1831G>T	ENSP00000490862.1:p.Ala611Ser
ENST00000338037.10:c.2134G>T	ENSP00000338185.6:p.Ala712Ser
ENST00000378637.6:c.2134G>T	ENSP00000367904.2:p.Ala712Ser
ENST00000378641.7:c.2134G>T	ENSP00000367908.3:p.Ala712Ser
ENST00000439627.2:c.91G>T	ENSP00000391162.1:p.Ala31Ser
ENST00000487210.5:c.1356G>T
ENST00000494924.2:n.1286G>T
ENST00000612075.4:c.1894G>T	ENSP00000479997.1:p.Ala632Ser
ENST00000617005.4:c.1894G>T	ENSP00000477664.1:p.Ala632Ser
ENST00000625874.2:c.1831G>T	ENSP00000486301.1:p.Ala611Ser
ENST00000626966.2:c.1831G>T	ENSP00000487075.1:p.Ala611Ser
NM_015192.3:c.2134G>T	NP_056007.1:p.Ala712Ser
NM_182734.2:c.2134G>T	NP_877398.1:p.Ala712Ser
XM_011529199.1:c.2134G>T	XP_011527501.1:p.Ala712Ser
XM_011529200.1:c.1918G>T	XP_011527502.1:p.Ala640Ser
XM_011529201.1:c.1831G>T	XP_011527503.1:p.Ala611Ser
XM_011529203.1:c.361G>T	XP_011527505.1:p.Ala121Ser
NM_015192.4:c.2134G>T MANE Select	NP_056007.1:p.Ala712Ser
NM_182734.3:c.2134G>T	NP_877398.1:p.Ala712Ser