Canonical Allele Identifier: CA63740439

Gene: PLCL1

Linked Data

• dbSNP Id: rs1010371904
• gnomAD v2: 2-198913910-G-T
• gnomAD v3: 2-198049186-G-T
• gnomAD v4: 2-198049186-G-T
• MyVariant Identifiers: chr2:g.198913910G>T (hg19) ; chr2:g.198049186G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.198049186G>T , CM000664.2:g.198049186G>T	GRCh38
NC_000002.11:g.198913910G>T , CM000664.1:g.198913910G>T	GRCh37
NC_000002.10:g.198622155G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428675.6:c.241-34572G>T MANE Select	ENSP00000402861.1:n.241-34572G>T
ENST00000428675.5:c.241-34572G>T	ENSP00000402861.1:n.241-34572G>T
ENST00000435320.1:c.*13-34572G>T	ENSP00000410488.1:n.*13-34572G>T
ENST00000487695.6:c.19-34572G>T	ENSP00000457588.1:n.19-34572G>T
NM_006226.3:c.241-34572G>T	NP_006217.3:n.241-34572G>T
XM_005246643.2:c.19-34572G>T	XP_005246700.1:n.19-34572G>T
XM_011511351.1:c.4-34572G>T	XP_011509653.1:n.4-34572G>T
XM_005246643.4:c.19-34572G>T	XP_005246700.1:n.19-34572G>T
XM_011511351.2:c.4-34572G>T	XP_011509653.1:n.4-34572G>T
XM_017004339.2:c.4-34572G>T	XP_016859828.1:n.4-34572G>T
XM_017004340.2:c.-54-34572G>T	XP_016859829.1:n.-54-34572G>T
NM_006226.4:c.241-34572G>T MANE Select	NP_006217.3:n.241-34572G>T