Canonical Allele Identifier: CA408206804

Gene: PLCB1

Linked Data

• MyVariant Identifiers: chr20:g.8717761G>T (hg19) ; chr20:g.8737114G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.8737114G>T , CM000682.2:g.8737114G>T	GRCh38
NC_000020.10:g.8717761G>T , CM000682.1:g.8717761G>T	GRCh37
NC_000020.9:g.8665761G>T	NCBI36
NG_028168.1:g.609466G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338037.11:c.2130G>T MANE Select	ENSP00000338185.6:p.Arg710Ser
ENST00000635830.1:n.2201G>T
ENST00000636825.1:n.1994G>T
ENST00000637919.1:c.1827G>T	ENSP00000490862.1:p.Arg609Ser
ENST00000338037.10:c.2130G>T	ENSP00000338185.6:p.Arg710Ser
ENST00000378637.6:c.2130G>T	ENSP00000367904.2:p.Arg710Ser
ENST00000378641.7:c.2130G>T	ENSP00000367908.3:p.Arg710Ser
ENST00000439627.2:c.87G>T	ENSP00000391162.1:p.Arg29Ser
ENST00000487210.5:c.1352G>T
ENST00000494924.2:n.1282G>T
ENST00000612075.4:c.1890G>T	ENSP00000479997.1:p.Arg630Ser
ENST00000617005.4:c.1890G>T	ENSP00000477664.1:p.Arg630Ser
ENST00000625874.2:c.1827G>T	ENSP00000486301.1:p.Arg609Ser
ENST00000626966.2:c.1827G>T	ENSP00000487075.1:p.Arg609Ser
NM_015192.3:c.2130G>T	NP_056007.1:p.Arg710Ser
NM_182734.2:c.2130G>T	NP_877398.1:p.Arg710Ser
XM_011529199.1:c.2130G>T	XP_011527501.1:p.Arg710Ser
XM_011529200.1:c.1914G>T	XP_011527502.1:p.Arg638Ser
XM_011529201.1:c.1827G>T	XP_011527503.1:p.Arg609Ser
XM_011529203.1:c.357G>T	XP_011527505.1:p.Arg119Ser
NM_015192.4:c.2130G>T MANE Select	NP_056007.1:p.Arg710Ser
NM_182734.3:c.2130G>T	NP_877398.1:p.Arg710Ser