Canonical Allele Identifier: CA16578322

Gene: PLCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.8649160C>T , CM000682.2:g.8649160C>T	GRCh38
NC_000020.10:g.8629807C>T , CM000682.1:g.8629807C>T	GRCh37
NC_000020.9:g.8577807C>T	NCBI36
NG_028168.1:g.521512C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015192.4:c.519-214C>T MANE Select	NP_056007.1:n.519-214C>T
ENST00000338037.11:c.519-214C>T MANE Select	ENSP00000338185.6:n.519-214C>T
NM_015192.3:c.519-214C>T	NP_056007.1:n.519-214C>T
NM_182734.2:c.519-214C>T	NP_877398.1:n.519-214C>T
NM_182734.3:c.519-214C>T	NP_877398.1:n.519-214C>T
ENST00000338037.10:c.519-214C>T	ENSP00000338185.6:n.519-214C>T
ENST00000378637.6:c.519-214C>T	ENSP00000367904.2:n.519-214C>T
ENST00000378641.7:c.519-214C>T	ENSP00000367908.3:n.519-214C>T
ENST00000404098.6:c.519-214C>T	ENSP00000384001.3:n.519-214C>T
ENST00000612075.4:c.279-214C>T	ENSP00000479997.1:n.279-214C>T
ENST00000617005.4:c.279-214C>T	ENSP00000477664.1:n.279-214C>T
ENST00000625874.2:c.216-214C>T	ENSP00000486301.1:n.216-214C>T
ENST00000626966.2:c.216-214C>T	ENSP00000487075.1:n.216-214C>T
ENST00000628900.1:n.340-214C>T
ENST00000629992.2:c.519-214C>T	ENSP00000486531.1:n.519-214C>T
ENST00000630495.2:c.216-214C>T	ENSP00000486655.1:n.216-214C>T
ENST00000635830.1:n.590-214C>T
ENST00000636319.1:c.519-234C>T	ENSP00000490455.1:n.519-234C>T
ENST00000636825.1:n.383-214C>T
ENST00000637919.1:c.216-214C>T	ENSP00000490862.1:n.216-214C>T
XM_011529199.1:c.519-214C>T	XP_011527501.1:n.519-214C>T
XM_011529200.1:c.303-214C>T	XP_011527502.1:n.303-214C>T
XM_011529201.1:c.216-214C>T	XP_011527503.1:n.216-214C>T
XM_011529202.1:c.519-214C>T	XP_011527504.1:n.519-214C>T
XR_001754732.1:n.735-5612G>A
XR_937241.1:n.731-5612G>A