Canonical Allele Identifier: CA5612213

Gene: PLCE1

Linked Data

• dbSNP Id: rs201512392
• ExAC: 10:95791765 G / C
• gnomAD v2: 10-95791765-G-C
• gnomAD v3: 10-94032008-G-C
• gnomAD v4: 10-94032008-G-C
• MyVariant Identifiers: chr10:g.95791765G>C (hg19) ; chr10:g.94032008G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94032008G>C , CM000672.2:g.94032008G>C	GRCh38
NC_000010.10:g.95791765G>C , CM000672.1:g.95791765G>C	GRCh37
NC_000010.9:g.95781755G>C	NCBI36
NG_015799.1:g.43020G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000685253.1:c.962G>C	ENSP00000509405.1:p.Arg321Pro
ENST00000686954.1:c.962G>C	ENSP00000508416.1:p.Arg321Pro
ENST00000689233.1:n.1292G>C
ENST00000689699.1:n.1292G>C
ENST00000692286.1:c.962G>C	ENSP00000509490.1:p.Arg321Pro
ENST00000692396.1:c.962G>C	ENSP00000508605.1:p.Arg321Pro
ENST00000371380.8:c.962G>C MANE Select	ENSP00000360431.2:p.Arg321Pro
ENST00000675487.1:c.962G>C	ENSP00000502340.1:p.Arg321Pro
ENST00000675718.1:c.33G>C
ENST00000260766.7:c.962G>C	ENSP00000260766.3:p.Arg321Pro
ENST00000371380.7:c.962G>C	ENSP00000360431.2:p.Arg321Pro
NM_001288989.1:c.962G>C	NP_001275918.1:p.Arg321Pro
NM_016341.3:c.962G>C	NP_057425.3:p.Arg321Pro
XM_006717885.2:c.962G>C	XP_006717948.1:p.Arg321Pro
XM_006717886.2:c.962G>C	XP_006717949.1:p.Arg321Pro
XM_006717888.2:c.962G>C	XP_006717951.1:p.Arg321Pro
XM_006717889.2:c.962G>C	XP_006717952.1:p.Arg321Pro
XM_011539849.1:c.962G>C	XP_011538151.1:p.Arg321Pro
XM_011539851.1:c.962G>C	XP_011538153.1:p.Arg321Pro
XM_011539852.1:c.962G>C	XP_011538154.1:p.Arg321Pro
XM_006717885.4:c.962G>C	XP_006717948.1:p.Arg321Pro
XM_006717888.4:c.962G>C	XP_006717951.1:p.Arg321Pro
XM_006717889.4:c.962G>C	XP_006717952.1:p.Arg321Pro
XM_011539849.3:c.962G>C	XP_011538151.1:p.Arg321Pro
XM_011539851.3:c.962G>C	XP_011538153.1:p.Arg321Pro
XM_011539852.3:c.962G>C	XP_011538154.1:p.Arg321Pro
XM_017016310.2:c.962G>C	XP_016871799.1:p.Arg321Pro
XM_017016311.2:c.962G>C	XP_016871800.1:p.Arg321Pro
NM_001288989.2:c.962G>C	NP_001275918.1:p.Arg321Pro
NM_016341.4:c.962G>C MANE Select	NP_057425.3:p.Arg321Pro