Canonical Allele Identifier: CA408206968

Gene: PLCB1

Linked Data

• MyVariant Identifiers: chr20:g.8717787A>T (hg19) ; chr20:g.8737140A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.8737140A>T , CM000682.2:g.8737140A>T	GRCh38
NC_000020.10:g.8717787A>T , CM000682.1:g.8717787A>T	GRCh37
NC_000020.9:g.8665787A>T	NCBI36
NG_028168.1:g.609492A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338037.11:c.2156A>T MANE Select	ENSP00000338185.6:p.Gln719Leu
ENST00000635830.1:n.2227A>T
ENST00000636825.1:n.2020A>T
ENST00000637919.1:c.1853A>T	ENSP00000490862.1:p.Gln618Leu
ENST00000338037.10:c.2156A>T	ENSP00000338185.6:p.Gln719Leu
ENST00000378637.6:c.2156A>T	ENSP00000367904.2:p.Gln719Leu
ENST00000378641.7:c.2156A>T	ENSP00000367908.3:p.Gln719Leu
ENST00000439627.2:c.113A>T	ENSP00000391162.1:p.Gln38Leu
ENST00000487210.5:c.1378A>T
ENST00000494924.2:n.1308A>T
ENST00000612075.4:c.1916A>T	ENSP00000479997.1:p.Gln639Leu
ENST00000617005.4:c.1916A>T	ENSP00000477664.1:p.Gln639Leu
ENST00000625874.2:c.1853A>T	ENSP00000486301.1:p.Gln618Leu
ENST00000626966.2:c.1853A>T	ENSP00000487075.1:p.Gln618Leu
NM_015192.3:c.2156A>T	NP_056007.1:p.Gln719Leu
NM_182734.2:c.2156A>T	NP_877398.1:p.Gln719Leu
XM_011529199.1:c.2156A>T	XP_011527501.1:p.Gln719Leu
XM_011529200.1:c.1940A>T	XP_011527502.1:p.Gln647Leu
XM_011529201.1:c.1853A>T	XP_011527503.1:p.Gln618Leu
XM_011529203.1:c.383A>T	XP_011527505.1:p.Gln128Leu
NM_015192.4:c.2156A>T MANE Select	NP_056007.1:p.Gln719Leu
NM_182734.3:c.2156A>T	NP_877398.1:p.Gln719Leu