Canonical Allele Identifier: CA746745092

Gene: PLCB1

Linked Data

• dbSNP Id: rs1452359990
• gnomAD v3: 20-8736921-T-A
• gnomAD v4: 20-8736921-T-A
• MyVariant Identifiers: chr20:g.8717568T>A (hg19) ; chr20:g.8736921T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.8736921T>A , CM000682.2:g.8736921T>A	GRCh38
NC_000020.10:g.8717568T>A , CM000682.1:g.8717568T>A	GRCh37
NC_000020.9:g.8665568T>A	NCBI36
NG_028168.1:g.609273T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338037.11:c.2044-107T>A MANE Select	ENSP00000338185.6:n.2044-107T>A
ENST00000635830.1:n.2115-107T>A
ENST00000636825.1:n.1908-107T>A
ENST00000637919.1:c.1741-107T>A	ENSP00000490862.1:n.1741-107T>A
ENST00000338037.10:c.2044-107T>A	ENSP00000338185.6:n.2044-107T>A
ENST00000378637.6:c.2044-107T>A	ENSP00000367904.2:n.2044-107T>A
ENST00000378641.7:c.2044-107T>A	ENSP00000367908.3:n.2044-107T>A
ENST00000487210.5:c.1266-107T>A
ENST00000494924.2:n.1196-107T>A
ENST00000612075.4:c.1804-107T>A	ENSP00000479997.1:n.1804-107T>A
ENST00000617005.4:c.1804-107T>A	ENSP00000477664.1:n.1804-107T>A
ENST00000625874.2:c.1741-107T>A	ENSP00000486301.1:n.1741-107T>A
ENST00000626966.2:c.1741-107T>A	ENSP00000487075.1:n.1741-107T>A
NM_015192.3:c.2044-107T>A	NP_056007.1:n.2044-107T>A
NM_182734.2:c.2044-107T>A	NP_877398.1:n.2044-107T>A
XM_011529199.1:c.2044-107T>A	XP_011527501.1:n.2044-107T>A
XM_011529200.1:c.1828-107T>A	XP_011527502.1:n.1828-107T>A
XM_011529201.1:c.1741-107T>A	XP_011527503.1:n.1741-107T>A
XM_011529203.1:c.271-107T>A	XP_011527505.1:n.271-107T>A
NM_015192.4:c.2044-107T>A MANE Select	NP_056007.1:n.2044-107T>A
NM_182734.3:c.2044-107T>A	NP_877398.1:n.2044-107T>A