Canonical Allele Identifier: CA154276
Gene: PLCB1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.8774575G>A , CM000682.2:g.8774575G>A GRCh38
NC_000020.10:g.8755222G>A , CM000682.1:g.8755222G>A GRCh37
NC_000020.9:g.8703222G>A NCBI36
NG_028168.1:g.646927G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338037.11:c.2967G>A MANE Select ENSP00000338185.6:p.Thr989=
ENST00000635830.1:n.3038G>A
ENST00000635929.1:c.136G>A
ENST00000636825.1:n.2831G>A
ENST00000637919.1:c.2664G>A ENSP00000490862.1:p.Thr888=
ENST00000338037.10:c.2967G>A ENSP00000338185.6:p.Thr989=
ENST00000378637.6:c.2967G>A ENSP00000367904.2:p.Thr989=
ENST00000378641.7:c.2967G>A ENSP00000367908.3:p.Thr989=
ENST00000487210.5:c.2189G>A
ENST00000494924.2:n.2119G>A
ENST00000612075.4:c.2727G>A ENSP00000479997.1:p.Thr909=
ENST00000617005.4:c.2727G>A ENSP00000477664.1:p.Thr909=
ENST00000625874.2:c.2664G>A ENSP00000486301.1:p.Thr888=
ENST00000626966.2:c.2664G>A ENSP00000487075.1:p.Thr888=
ENST00000628239.2:c.227G>A
NM_015192.3:c.2967G>A NP_056007.1:p.Thr989=
NM_182734.2:c.2967G>A NP_877398.1:p.Thr989=
XM_011529199.1:c.2967G>A XP_011527501.1:p.Thr989=
XM_011529200.1:c.2751G>A XP_011527502.1:p.Thr917=
XM_011529201.1:c.2664G>A XP_011527503.1:p.Thr888=
XM_011529203.1:c.1194G>A XP_011527505.1:p.Thr398=
NM_015192.4:c.2967G>A MANE Select NP_056007.1:p.Thr989=
NM_182734.3:c.2967G>A NP_877398.1:p.Thr989=