Canonical Allele Identifier: CA408206517

Gene: PLCB1

Linked Data

• MyVariant Identifiers: chr20:g.8717692T>G (hg19) ; chr20:g.8737045T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.8737045T>G , CM000682.2:g.8737045T>G	GRCh38
NC_000020.10:g.8717692T>G , CM000682.1:g.8717692T>G	GRCh37
NC_000020.9:g.8665692T>G	NCBI36
NG_028168.1:g.609397T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338037.11:c.2061T>G MANE Select	ENSP00000338185.6:p.Phe687Leu
ENST00000635830.1:n.2132T>G
ENST00000636825.1:n.1925T>G
ENST00000637919.1:c.1758T>G	ENSP00000490862.1:p.Phe586Leu
ENST00000338037.10:c.2061T>G	ENSP00000338185.6:p.Phe687Leu
ENST00000378637.6:c.2061T>G	ENSP00000367904.2:p.Phe687Leu
ENST00000378641.7:c.2061T>G	ENSP00000367908.3:p.Phe687Leu
ENST00000439627.2:c.18T>G	ENSP00000391162.1:p.Phe6Leu
ENST00000487210.5:c.1283T>G
ENST00000494924.2:n.1213T>G
ENST00000612075.4:c.1821T>G	ENSP00000479997.1:p.Phe607Leu
ENST00000617005.4:c.1821T>G	ENSP00000477664.1:p.Phe607Leu
ENST00000625874.2:c.1758T>G	ENSP00000486301.1:p.Phe586Leu
ENST00000626966.2:c.1758T>G	ENSP00000487075.1:p.Phe586Leu
NM_015192.3:c.2061T>G	NP_056007.1:p.Phe687Leu
NM_182734.2:c.2061T>G	NP_877398.1:p.Phe687Leu
XM_011529199.1:c.2061T>G	XP_011527501.1:p.Phe687Leu
XM_011529200.1:c.1845T>G	XP_011527502.1:p.Phe615Leu
XM_011529201.1:c.1758T>G	XP_011527503.1:p.Phe586Leu
XM_011529203.1:c.288T>G	XP_011527505.1:p.Phe96Leu
NM_015192.4:c.2061T>G MANE Select	NP_056007.1:p.Phe687Leu
NM_182734.3:c.2061T>G	NP_877398.1:p.Phe687Leu