Canonical Allele Identifier: CA408207137

Gene: PLCB1

Linked Data

• MyVariant Identifiers: chr20:g.8717819G>C (hg19) ; chr20:g.8737172G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.8737172G>C , CM000682.2:g.8737172G>C	GRCh38
NC_000020.10:g.8717819G>C , CM000682.1:g.8717819G>C	GRCh37
NC_000020.9:g.8665819G>C	NCBI36
NG_028168.1:g.609524G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000338037.11:c.2188G>C MANE Select	ENSP00000338185.6:p.Glu730Gln
ENST00000635830.1:n.2259G>C
ENST00000636825.1:n.2052G>C
ENST00000637919.1:c.1885G>C	ENSP00000490862.1:p.Glu629Gln
ENST00000338037.10:c.2188G>C	ENSP00000338185.6:p.Glu730Gln
ENST00000378637.6:c.2188G>C	ENSP00000367904.2:p.Glu730Gln
ENST00000378641.7:c.2188G>C	ENSP00000367908.3:p.Glu730Gln
ENST00000439627.2:c.145G>C	ENSP00000391162.1:p.Glu49Gln
ENST00000487210.5:c.1410G>C
ENST00000494924.2:n.1340G>C
ENST00000612075.4:c.1948G>C	ENSP00000479997.1:p.Glu650Gln
ENST00000617005.4:c.1948G>C	ENSP00000477664.1:p.Glu650Gln
ENST00000625874.2:c.1885G>C	ENSP00000486301.1:p.Glu629Gln
ENST00000626966.2:c.1885G>C	ENSP00000487075.1:p.Glu629Gln
NM_015192.3:c.2188G>C	NP_056007.1:p.Glu730Gln
NM_182734.2:c.2188G>C	NP_877398.1:p.Glu730Gln
XM_011529199.1:c.2188G>C	XP_011527501.1:p.Glu730Gln
XM_011529200.1:c.1972G>C	XP_011527502.1:p.Glu658Gln
XM_011529201.1:c.1885G>C	XP_011527503.1:p.Glu629Gln
XM_011529203.1:c.415G>C	XP_011527505.1:p.Glu139Gln
NM_015192.4:c.2188G>C MANE Select	NP_056007.1:p.Glu730Gln
NM_182734.3:c.2188G>C	NP_877398.1:p.Glu730Gln