Canonical Allele Identifier: CA311261185

Gene: PLCB1

Linked Data

• dbSNP Id: rs866425965
• COSMIC: COSM3549433 ; COSM3549434 ; COSM3549435
• MyVariant Identifiers: chr20:g.8717816G>A (hg19) ; chr20:g.8737169G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.8737169G>A , CM000682.2:g.8737169G>A	GRCh38
NC_000020.10:g.8717816G>A , CM000682.1:g.8717816G>A	GRCh37
NC_000020.9:g.8665816G>A	NCBI36
NG_028168.1:g.609521G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000338037.11:c.2185G>A MANE Select	ENSP00000338185.6:p.Glu729Lys
ENST00000635830.1:n.2256G>A
ENST00000636825.1:n.2049G>A
ENST00000637919.1:c.1882G>A	ENSP00000490862.1:p.Glu628Lys
ENST00000338037.10:c.2185G>A	ENSP00000338185.6:p.Glu729Lys
ENST00000378637.6:c.2185G>A	ENSP00000367904.2:p.Glu729Lys
ENST00000378641.7:c.2185G>A	ENSP00000367908.3:p.Glu729Lys
ENST00000439627.2:c.142G>A	ENSP00000391162.1:p.Glu48Lys
ENST00000487210.5:c.1407G>A
ENST00000494924.2:n.1337G>A
ENST00000612075.4:c.1945G>A	ENSP00000479997.1:p.Glu649Lys
ENST00000617005.4:c.1945G>A	ENSP00000477664.1:p.Glu649Lys
ENST00000625874.2:c.1882G>A	ENSP00000486301.1:p.Glu628Lys
ENST00000626966.2:c.1882G>A	ENSP00000487075.1:p.Glu628Lys
NM_015192.3:c.2185G>A	NP_056007.1:p.Glu729Lys
NM_182734.2:c.2185G>A	NP_877398.1:p.Glu729Lys
XM_011529199.1:c.2185G>A	XP_011527501.1:p.Glu729Lys
XM_011529200.1:c.1969G>A	XP_011527502.1:p.Glu657Lys
XM_011529201.1:c.1882G>A	XP_011527503.1:p.Glu628Lys
XM_011529203.1:c.412G>A	XP_011527505.1:p.Glu138Lys
NM_015192.4:c.2185G>A MANE Select	NP_056007.1:p.Glu729Lys
NM_182734.3:c.2185G>A	NP_877398.1:p.Glu729Lys