Canonical Allele Identifier: CA408207119

Gene: PLCB1

Linked Data

• COSMIC: COSM6160626 ; COSM6160627 ; COSM6160628
• MyVariant Identifiers: chr20:g.8717814A>T (hg19) ; chr20:g.8737167A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.8737167A>T , CM000682.2:g.8737167A>T	GRCh38
NC_000020.10:g.8717814A>T , CM000682.1:g.8717814A>T	GRCh37
NC_000020.9:g.8665814A>T	NCBI36
NG_028168.1:g.609519A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000338037.11:c.2183A>T MANE Select	ENSP00000338185.6:p.Glu728Val
ENST00000635830.1:n.2254A>T
ENST00000636825.1:n.2047A>T
ENST00000637919.1:c.1880A>T	ENSP00000490862.1:p.Glu627Val
ENST00000338037.10:c.2183A>T	ENSP00000338185.6:p.Glu728Val
ENST00000378637.6:c.2183A>T	ENSP00000367904.2:p.Glu728Val
ENST00000378641.7:c.2183A>T	ENSP00000367908.3:p.Glu728Val
ENST00000439627.2:c.140A>T	ENSP00000391162.1:p.Glu47Val
ENST00000487210.5:c.1405A>T
ENST00000494924.2:n.1335A>T
ENST00000612075.4:c.1943A>T	ENSP00000479997.1:p.Glu648Val
ENST00000617005.4:c.1943A>T	ENSP00000477664.1:p.Glu648Val
ENST00000625874.2:c.1880A>T	ENSP00000486301.1:p.Glu627Val
ENST00000626966.2:c.1880A>T	ENSP00000487075.1:p.Glu627Val
NM_015192.3:c.2183A>T	NP_056007.1:p.Glu728Val
NM_182734.2:c.2183A>T	NP_877398.1:p.Glu728Val
XM_011529199.1:c.2183A>T	XP_011527501.1:p.Glu728Val
XM_011529200.1:c.1967A>T	XP_011527502.1:p.Glu656Val
XM_011529201.1:c.1880A>T	XP_011527503.1:p.Glu627Val
XM_011529203.1:c.410A>T	XP_011527505.1:p.Glu137Val
NM_015192.4:c.2183A>T MANE Select	NP_056007.1:p.Glu728Val
NM_182734.3:c.2183A>T	NP_877398.1:p.Glu728Val