Canonical Allele Identifier: CA509639269

Gene: PLCB1

Linked Data

• dbSNP Id: rs1467802767
• gnomAD v2: 20-8717809-C-T
• gnomAD v4: 20-8737162-C-T
• MyVariant Identifiers: chr20:g.8717809C>T (hg19) ; chr20:g.8737162C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.8737162C>T , CM000682.2:g.8737162C>T	GRCh38
NC_000020.10:g.8717809C>T , CM000682.1:g.8717809C>T	GRCh37
NC_000020.9:g.8665809C>T	NCBI36
NG_028168.1:g.609514C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338037.11:c.2178C>T MANE Select	ENSP00000338185.6:p.Val726=
ENST00000635830.1:n.2249C>T
ENST00000636825.1:n.2042C>T
ENST00000637919.1:c.1875C>T	ENSP00000490862.1:p.Val625=
ENST00000338037.10:c.2178C>T	ENSP00000338185.6:p.Val726=
ENST00000378637.6:c.2178C>T	ENSP00000367904.2:p.Val726=
ENST00000378641.7:c.2178C>T	ENSP00000367908.3:p.Val726=
ENST00000439627.2:c.135C>T	ENSP00000391162.1:p.Val45=
ENST00000487210.5:c.1400C>T
ENST00000494924.2:n.1330C>T
ENST00000612075.4:c.1938C>T	ENSP00000479997.1:p.Val646=
ENST00000617005.4:c.1938C>T	ENSP00000477664.1:p.Val646=
ENST00000625874.2:c.1875C>T	ENSP00000486301.1:p.Val625=
ENST00000626966.2:c.1875C>T	ENSP00000487075.1:p.Val625=
NM_015192.3:c.2178C>T	NP_056007.1:p.Val726=
NM_182734.2:c.2178C>T	NP_877398.1:p.Val726=
XM_011529199.1:c.2178C>T	XP_011527501.1:p.Val726=
XM_011529200.1:c.1962C>T	XP_011527502.1:p.Val654=
XM_011529201.1:c.1875C>T	XP_011527503.1:p.Val625=
XM_011529203.1:c.405C>T	XP_011527505.1:p.Val135=
NM_015192.4:c.2178C>T MANE Select	NP_056007.1:p.Val726=
NM_182734.3:c.2178C>T	NP_877398.1:p.Val726=