Canonical Allele Identifier: CA408201498

Gene: PLCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.8717800A>G , CM000682.2:g.8717800A>G	GRCh38
NC_000020.10:g.8698447A>G , CM000682.1:g.8698447A>G	GRCh37
NC_000020.9:g.8646447A>G	NCBI36
NG_028168.1:g.590152A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015192.4:c.1465A>G MANE Select	NP_056007.1:p.Thr489Ala
ENST00000338037.11:c.1465A>G MANE Select	ENSP00000338185.6:p.Thr489Ala
NM_015192.3:c.1465A>G	NP_056007.1:p.Thr489Ala
NM_182734.2:c.1465A>G	NP_877398.1:p.Thr489Ala
NM_182734.3:c.1465A>G	NP_877398.1:p.Thr489Ala
ENST00000338037.10:c.1465A>G	ENSP00000338185.6:p.Thr489Ala
ENST00000378637.6:c.1465A>G	ENSP00000367904.2:p.Thr489Ala
ENST00000378641.7:c.1465A>G	ENSP00000367908.3:p.Thr489Ala
ENST00000487210.5:c.687A>G
ENST00000494924.2:n.617A>G
ENST00000612075.4:c.1225A>G	ENSP00000479997.1:p.Thr409Ala
ENST00000617005.4:c.1225A>G	ENSP00000477664.1:p.Thr409Ala
ENST00000625874.2:c.1162A>G	ENSP00000486301.1:p.Thr388Ala
ENST00000626966.2:c.1162A>G	ENSP00000487075.1:p.Thr388Ala
ENST00000635830.1:n.1536A>G
ENST00000636319.1:c.*908A>G	ENSP00000490455.1:n.*908A>G
ENST00000636825.1:n.1329A>G
ENST00000637919.1:c.1162A>G	ENSP00000490862.1:p.Thr388Ala
XM_011529199.1:c.1465A>G	XP_011527501.1:p.Thr489Ala
XM_011529200.1:c.1249A>G	XP_011527502.1:p.Thr417Ala
XM_011529201.1:c.1162A>G	XP_011527503.1:p.Thr388Ala
XM_011529202.1:c.1465A>G	XP_011527504.1:p.Thr489Ala