Canonical Allele Identifier: CA509638936

Gene: PLCB1

Linked Data

• MyVariant Identifiers: chr20:g.8717704G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.8737057G>A , CM000682.2:g.8737057G>A	GRCh38
NC_000020.10:g.8717704G>A , CM000682.1:g.8717704G>A	GRCh37
NC_000020.9:g.8665704G>A	NCBI36
NG_028168.1:g.609409G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338037.11:c.2073G>A MANE Select	ENSP00000338185.6:p.Lys691=
ENST00000635830.1:n.2144G>A
ENST00000636825.1:n.1937G>A
ENST00000637919.1:c.1770G>A	ENSP00000490862.1:p.Lys590=
ENST00000338037.10:c.2073G>A	ENSP00000338185.6:p.Lys691=
ENST00000378637.6:c.2073G>A	ENSP00000367904.2:p.Lys691=
ENST00000378641.7:c.2073G>A	ENSP00000367908.3:p.Lys691=
ENST00000439627.2:c.30G>A	ENSP00000391162.1:p.Lys10=
ENST00000487210.5:c.1295G>A
ENST00000494924.2:n.1225G>A
ENST00000612075.4:c.1833G>A	ENSP00000479997.1:p.Lys611=
ENST00000617005.4:c.1833G>A	ENSP00000477664.1:p.Lys611=
ENST00000625874.2:c.1770G>A	ENSP00000486301.1:p.Lys590=
ENST00000626966.2:c.1770G>A	ENSP00000487075.1:p.Lys590=
NM_015192.3:c.2073G>A	NP_056007.1:p.Lys691=
NM_182734.2:c.2073G>A	NP_877398.1:p.Lys691=
XM_011529199.1:c.2073G>A	XP_011527501.1:p.Lys691=
XM_011529200.1:c.1857G>A	XP_011527502.1:p.Lys619=
XM_011529201.1:c.1770G>A	XP_011527503.1:p.Lys590=
XM_011529203.1:c.300G>A	XP_011527505.1:p.Lys100=
NM_015192.4:c.2073G>A MANE Select	NP_056007.1:p.Lys691=
NM_182734.3:c.2073G>A	NP_877398.1:p.Lys691=