Canonical Allele Identifier: CA381118936
Community Standard Title: NM_000932.5(PLCB3):c.3621T>G (p.Cys1207Trp)
Gene: PLCB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64267472T>G , CM000673.2:g.64267472T>G GRCh38
NC_000011.9:g.64034944T>G , CM000673.1:g.64034944T>G GRCh37
NC_000011.8:g.63791520T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_000932.5:c.3621T>G MANE Select NP_000923.1:p.Cys1207Trp
ENST00000279230.12:c.3621T>G MANE Select ENSP00000279230.6:p.Cys1207Trp
NM_000932.2:c.3621T>G NP_000923.1:p.Cys1207Trp
NM_000932.3:c.3621T>G NP_000923.1:p.Cys1207Trp
NM_001184883.1:c.3420T>G NP_001171812.1:p.Cys1140Trp
NM_001184883.2:c.3420T>G NP_001171812.1:p.Cys1140Trp
NM_001316314.1:c.3621T>G NP_001303243.1:p.Cys1207Trp
NM_001316314.2:c.3621T>G NP_001303243.1:p.Cys1207Trp
NM_001316314.3:c.3621T>G NP_001303243.1:p.Cys1207Trp
ENST00000279230.10:c.3621T>G ENSP00000279230.6:p.Cys1207Trp
ENST00000325234.5:c.3420T>G ENSP00000324660.5:p.Cys1140Trp
ENST00000540288.5:c.3621T>G ENSP00000443631.1:p.Cys1207Trp
XM_011545101.1:c.3414+920T>G XP_011543403.1:n.3414+920T>G
XM_011545101.2:c.3414+920T>G XP_011543403.1:n.3414+920T>G