Canonical Allele Identifier: CA409030244

Gene: PLCG1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.41172577C>T , CM000682.2:g.41172577C>T	GRCh38
NC_000020.10:g.39801217C>T , CM000682.1:g.39801217C>T	GRCh37
NC_000020.9:g.39234631C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_002660.3:c.3062C>T MANE Select	NP_002651.2:p.Ser1021Phe
ENST00000685551.1:c.3062C>T MANE Select	ENSP00000508698.1:p.Ser1021Phe
NM_002660.2:c.3062C>T	NP_002651.2:p.Ser1021Phe
NM_182811.1:c.3062C>T	NP_877963.1:p.Ser1021Phe
NM_182811.2:c.3062C>T	NP_877963.1:p.Ser1021Phe
ENST00000244007.7:c.3062C>T	ENSP00000244007.3:p.Ser1021Phe
ENST00000373271.5:c.3062C>T	ENSP00000362368.1:p.Ser1021Phe
ENST00000461641.5:n.167C>T
ENST00000599785.5:c.238C>T	ENSP00000468958.1:n.238C>T
ENST00000608689.5:n.139C>T
ENST00000608885.5:c.62C>T	ENSP00000476432.1:p.Ser21Phe
ENST00000612731.2:c.355+2308C>T
XM_005260438.2:c.3062C>T	XP_005260495.1:p.Ser1021Phe
XM_011528865.1:c.2525C>T	XP_011527167.1:p.Ser842Phe
XR_001754293.1:n.3086C>T
XR_001754294.1:n.3086C>T
XR_001754295.1:n.3134C>T
XR_001754296.1:n.3134C>T
XR_936550.1:n.3086C>T