Canonical Allele Identifier: CA509638960

Gene: PLCB1

Linked Data

• gnomAD v4: 20-8737063-T-G
• MyVariant Identifiers: chr20:g.8717710T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.8737063T>G , CM000682.2:g.8737063T>G	GRCh38
NC_000020.10:g.8717710T>G , CM000682.1:g.8717710T>G	GRCh37
NC_000020.9:g.8665710T>G	NCBI36
NG_028168.1:g.609415T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338037.11:c.2079T>G MANE Select	ENSP00000338185.6:p.Val693=
ENST00000635830.1:n.2150T>G
ENST00000636825.1:n.1943T>G
ENST00000637919.1:c.1776T>G	ENSP00000490862.1:p.Val592=
ENST00000338037.10:c.2079T>G	ENSP00000338185.6:p.Val693=
ENST00000378637.6:c.2079T>G	ENSP00000367904.2:p.Val693=
ENST00000378641.7:c.2079T>G	ENSP00000367908.3:p.Val693=
ENST00000439627.2:c.36T>G	ENSP00000391162.1:p.Val12=
ENST00000487210.5:c.1301T>G
ENST00000494924.2:n.1231T>G
ENST00000612075.4:c.1839T>G	ENSP00000479997.1:p.Val613=
ENST00000617005.4:c.1839T>G	ENSP00000477664.1:p.Val613=
ENST00000625874.2:c.1776T>G	ENSP00000486301.1:p.Val592=
ENST00000626966.2:c.1776T>G	ENSP00000487075.1:p.Val592=
NM_015192.3:c.2079T>G	NP_056007.1:p.Val693=
NM_182734.2:c.2079T>G	NP_877398.1:p.Val693=
XM_011529199.1:c.2079T>G	XP_011527501.1:p.Val693=
XM_011529200.1:c.1863T>G	XP_011527502.1:p.Val621=
XM_011529201.1:c.1776T>G	XP_011527503.1:p.Val592=
XM_011529203.1:c.306T>G	XP_011527505.1:p.Val102=
NM_015192.4:c.2079T>G MANE Select	NP_056007.1:p.Val693=
NM_182734.3:c.2079T>G	NP_877398.1:p.Val693=