Canonical Allele Identifier: CA509639276
Gene: PLCB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.8717824T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.8737177T>G , CM000682.2:g.8737177T>G GRCh38
NC_000020.10:g.8717824T>G , CM000682.1:g.8717824T>G GRCh37
NC_000020.9:g.8665824T>G NCBI36
NG_028168.1:g.609529T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000338037.11:c.2193T>G MANE Select ENSP00000338185.6:p.Pro731=
ENST00000635830.1:n.2264T>G
ENST00000636825.1:n.2057T>G
ENST00000637919.1:c.1890T>G ENSP00000490862.1:p.Pro630=
ENST00000338037.10:c.2193T>G ENSP00000338185.6:p.Pro731=
ENST00000378637.6:c.2193T>G ENSP00000367904.2:p.Pro731=
ENST00000378641.7:c.2193T>G ENSP00000367908.3:p.Pro731=
ENST00000439627.2:c.150T>G ENSP00000391162.1:p.Pro50=
ENST00000487210.5:c.1415T>G
ENST00000494924.2:n.1345T>G
ENST00000612075.4:c.1953T>G ENSP00000479997.1:p.Pro651=
ENST00000617005.4:c.1953T>G ENSP00000477664.1:p.Pro651=
ENST00000625874.2:c.1890T>G ENSP00000486301.1:p.Pro630=
ENST00000626966.2:c.1890T>G ENSP00000487075.1:p.Pro630=
NM_015192.3:c.2193T>G NP_056007.1:p.Pro731=
NM_182734.2:c.2193T>G NP_877398.1:p.Pro731=
XM_011529199.1:c.2193T>G XP_011527501.1:p.Pro731=
XM_011529200.1:c.1977T>G XP_011527502.1:p.Pro659=
XM_011529201.1:c.1890T>G XP_011527503.1:p.Pro630=
XM_011529203.1:c.420T>G XP_011527505.1:p.Pro140=
NM_015192.4:c.2193T>G MANE Select NP_056007.1:p.Pro731=
NM_182734.3:c.2193T>G NP_877398.1:p.Pro731=