Canonical Allele Identifier: CA408206536

Gene: PLCB1

Linked Data

• MyVariant Identifiers: chr20:g.8717697C>G (hg19) ; chr20:g.8737050C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.8737050C>G , CM000682.2:g.8737050C>G	GRCh38
NC_000020.10:g.8717697C>G , CM000682.1:g.8717697C>G	GRCh37
NC_000020.9:g.8665697C>G	NCBI36
NG_028168.1:g.609402C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338037.11:c.2066C>G MANE Select	ENSP00000338185.6:p.Ser689Cys
ENST00000635830.1:n.2137C>G
ENST00000636825.1:n.1930C>G
ENST00000637919.1:c.1763C>G	ENSP00000490862.1:p.Ser588Cys
ENST00000338037.10:c.2066C>G	ENSP00000338185.6:p.Ser689Cys
ENST00000378637.6:c.2066C>G	ENSP00000367904.2:p.Ser689Cys
ENST00000378641.7:c.2066C>G	ENSP00000367908.3:p.Ser689Cys
ENST00000439627.2:c.23C>G	ENSP00000391162.1:p.Ser8Cys
ENST00000487210.5:c.1288C>G
ENST00000494924.2:n.1218C>G
ENST00000612075.4:c.1826C>G	ENSP00000479997.1:p.Ser609Cys
ENST00000617005.4:c.1826C>G	ENSP00000477664.1:p.Ser609Cys
ENST00000625874.2:c.1763C>G	ENSP00000486301.1:p.Ser588Cys
ENST00000626966.2:c.1763C>G	ENSP00000487075.1:p.Ser588Cys
NM_015192.3:c.2066C>G	NP_056007.1:p.Ser689Cys
NM_182734.2:c.2066C>G	NP_877398.1:p.Ser689Cys
XM_011529199.1:c.2066C>G	XP_011527501.1:p.Ser689Cys
XM_011529200.1:c.1850C>G	XP_011527502.1:p.Ser617Cys
XM_011529201.1:c.1763C>G	XP_011527503.1:p.Ser588Cys
XM_011529203.1:c.293C>G	XP_011527505.1:p.Ser98Cys
NM_015192.4:c.2066C>G MANE Select	NP_056007.1:p.Ser689Cys
NM_182734.3:c.2066C>G	NP_877398.1:p.Ser689Cys