Canonical Allele Identifier: CA408206572

Gene: PLCB1

Linked Data

• MyVariant Identifiers: chr20:g.8717708G>C (hg19) ; chr20:g.8737061G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.8737061G>C , CM000682.2:g.8737061G>C	GRCh38
NC_000020.10:g.8717708G>C , CM000682.1:g.8717708G>C	GRCh37
NC_000020.9:g.8665708G>C	NCBI36
NG_028168.1:g.609413G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338037.11:c.2077G>C MANE Select	ENSP00000338185.6:p.Val693Leu
ENST00000635830.1:n.2148G>C
ENST00000636825.1:n.1941G>C
ENST00000637919.1:c.1774G>C	ENSP00000490862.1:p.Val592Leu
ENST00000338037.10:c.2077G>C	ENSP00000338185.6:p.Val693Leu
ENST00000378637.6:c.2077G>C	ENSP00000367904.2:p.Val693Leu
ENST00000378641.7:c.2077G>C	ENSP00000367908.3:p.Val693Leu
ENST00000439627.2:c.34G>C	ENSP00000391162.1:p.Val12Leu
ENST00000487210.5:c.1299G>C
ENST00000494924.2:n.1229G>C
ENST00000612075.4:c.1837G>C	ENSP00000479997.1:p.Val613Leu
ENST00000617005.4:c.1837G>C	ENSP00000477664.1:p.Val613Leu
ENST00000625874.2:c.1774G>C	ENSP00000486301.1:p.Val592Leu
ENST00000626966.2:c.1774G>C	ENSP00000487075.1:p.Val592Leu
NM_015192.3:c.2077G>C	NP_056007.1:p.Val693Leu
NM_182734.2:c.2077G>C	NP_877398.1:p.Val693Leu
XM_011529199.1:c.2077G>C	XP_011527501.1:p.Val693Leu
XM_011529200.1:c.1861G>C	XP_011527502.1:p.Val621Leu
XM_011529201.1:c.1774G>C	XP_011527503.1:p.Val592Leu
XM_011529203.1:c.304G>C	XP_011527505.1:p.Val102Leu
NM_015192.4:c.2077G>C MANE Select	NP_056007.1:p.Val693Leu
NM_182734.3:c.2077G>C	NP_877398.1:p.Val693Leu