Canonical Allele Identifier: CA408207144

Gene: PLCB1

Linked Data

• MyVariant Identifiers: chr20:g.8717820A>T (hg19) ; chr20:g.8737173A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.8737173A>T , CM000682.2:g.8737173A>T	GRCh38
NC_000020.10:g.8717820A>T , CM000682.1:g.8717820A>T	GRCh37
NC_000020.9:g.8665820A>T	NCBI36
NG_028168.1:g.609525A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000338037.11:c.2189A>T MANE Select	ENSP00000338185.6:p.Glu730Val
ENST00000635830.1:n.2260A>T
ENST00000636825.1:n.2053A>T
ENST00000637919.1:c.1886A>T	ENSP00000490862.1:p.Glu629Val
ENST00000338037.10:c.2189A>T	ENSP00000338185.6:p.Glu730Val
ENST00000378637.6:c.2189A>T	ENSP00000367904.2:p.Glu730Val
ENST00000378641.7:c.2189A>T	ENSP00000367908.3:p.Glu730Val
ENST00000439627.2:c.146A>T	ENSP00000391162.1:p.Glu49Val
ENST00000487210.5:c.1411A>T
ENST00000494924.2:n.1341A>T
ENST00000612075.4:c.1949A>T	ENSP00000479997.1:p.Glu650Val
ENST00000617005.4:c.1949A>T	ENSP00000477664.1:p.Glu650Val
ENST00000625874.2:c.1886A>T	ENSP00000486301.1:p.Glu629Val
ENST00000626966.2:c.1886A>T	ENSP00000487075.1:p.Glu629Val
NM_015192.3:c.2189A>T	NP_056007.1:p.Glu730Val
NM_182734.2:c.2189A>T	NP_877398.1:p.Glu730Val
XM_011529199.1:c.2189A>T	XP_011527501.1:p.Glu730Val
XM_011529200.1:c.1973A>T	XP_011527502.1:p.Glu658Val
XM_011529201.1:c.1886A>T	XP_011527503.1:p.Glu629Val
XM_011529203.1:c.416A>T	XP_011527505.1:p.Glu139Val
NM_015192.4:c.2189A>T MANE Select	NP_056007.1:p.Glu730Val
NM_182734.3:c.2189A>T	NP_877398.1:p.Glu730Val