Canonical Allele Identifier: CA205039

Gene: PLCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.8717804A>G , CM000682.2:g.8717804A>G	GRCh38
NC_000020.10:g.8698451A>G , CM000682.1:g.8698451A>G	GRCh37
NC_000020.9:g.8646451A>G	NCBI36
NG_028168.1:g.590156A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015192.4:c.1469A>G MANE Select	NP_056007.1:p.Tyr490Cys
ENST00000338037.11:c.1469A>G MANE Select	ENSP00000338185.6:p.Tyr490Cys
NM_015192.3:c.1469A>G	NP_056007.1:p.Tyr490Cys
NM_182734.2:c.1469A>G	NP_877398.1:p.Tyr490Cys
NM_182734.3:c.1469A>G	NP_877398.1:p.Tyr490Cys
ENST00000338037.10:c.1469A>G	ENSP00000338185.6:p.Tyr490Cys
ENST00000378637.6:c.1469A>G	ENSP00000367904.2:p.Tyr490Cys
ENST00000378641.7:c.1469A>G	ENSP00000367908.3:p.Tyr490Cys
ENST00000487210.5:c.691A>G
ENST00000494924.2:n.621A>G
ENST00000612075.4:c.1229A>G	ENSP00000479997.1:p.Tyr410Cys
ENST00000617005.4:c.1229A>G	ENSP00000477664.1:p.Tyr410Cys
ENST00000625874.2:c.1166A>G	ENSP00000486301.1:p.Tyr389Cys
ENST00000626966.2:c.1166A>G	ENSP00000487075.1:p.Tyr389Cys
ENST00000635830.1:n.1540A>G
ENST00000636319.1:c.*912A>G	ENSP00000490455.1:n.*912A>G
ENST00000636825.1:n.1333A>G
ENST00000637919.1:c.1166A>G	ENSP00000490862.1:p.Tyr389Cys
XM_011529199.1:c.1469A>G	XP_011527501.1:p.Tyr490Cys
XM_011529200.1:c.1253A>G	XP_011527502.1:p.Tyr418Cys
XM_011529201.1:c.1166A>G	XP_011527503.1:p.Tyr389Cys
XM_011529202.1:c.1469A>G	XP_011527504.1:p.Tyr490Cys