Canonical Allele Identifier: CA377637300

Gene: PLCE1

Linked Data

• gnomAD v4: 10-94032017-T-G
• MyVariant Identifiers: chr10:g.95791774T>G (hg19) ; chr10:g.94032017T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94032017T>G , CM000672.2:g.94032017T>G	GRCh38
NC_000010.10:g.95791774T>G , CM000672.1:g.95791774T>G	GRCh37
NC_000010.9:g.95781764T>G	NCBI36
NG_015799.1:g.43029T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000685253.1:c.971T>G	ENSP00000509405.1:p.Leu324Trp
ENST00000686954.1:c.971T>G	ENSP00000508416.1:p.Leu324Trp
ENST00000689233.1:n.1301T>G
ENST00000689699.1:n.1301T>G
ENST00000692286.1:c.971T>G	ENSP00000509490.1:p.Leu324Trp
ENST00000692396.1:c.971T>G	ENSP00000508605.1:p.Leu324Trp
ENST00000371380.8:c.971T>G MANE Select	ENSP00000360431.2:p.Leu324Trp
ENST00000675487.1:c.971T>G	ENSP00000502340.1:p.Leu324Trp
ENST00000675718.1:c.42T>G
ENST00000260766.7:c.971T>G	ENSP00000260766.3:p.Leu324Trp
ENST00000371380.7:c.971T>G	ENSP00000360431.2:p.Leu324Trp
NM_001288989.1:c.971T>G	NP_001275918.1:p.Leu324Trp
NM_016341.3:c.971T>G	NP_057425.3:p.Leu324Trp
XM_006717885.2:c.971T>G	XP_006717948.1:p.Leu324Trp
XM_006717886.2:c.971T>G	XP_006717949.1:p.Leu324Trp
XM_006717888.2:c.971T>G	XP_006717951.1:p.Leu324Trp
XM_006717889.2:c.971T>G	XP_006717952.1:p.Leu324Trp
XM_011539849.1:c.971T>G	XP_011538151.1:p.Leu324Trp
XM_011539851.1:c.971T>G	XP_011538153.1:p.Leu324Trp
XM_011539852.1:c.971T>G	XP_011538154.1:p.Leu324Trp
XM_006717885.4:c.971T>G	XP_006717948.1:p.Leu324Trp
XM_006717888.4:c.971T>G	XP_006717951.1:p.Leu324Trp
XM_006717889.4:c.971T>G	XP_006717952.1:p.Leu324Trp
XM_011539849.3:c.971T>G	XP_011538151.1:p.Leu324Trp
XM_011539851.3:c.971T>G	XP_011538153.1:p.Leu324Trp
XM_011539852.3:c.971T>G	XP_011538154.1:p.Leu324Trp
XM_017016310.2:c.971T>G	XP_016871799.1:p.Leu324Trp
XM_017016311.2:c.971T>G	XP_016871800.1:p.Leu324Trp
NM_001288989.2:c.971T>G	NP_001275918.1:p.Leu324Trp
NM_016341.4:c.971T>G MANE Select	NP_057425.3:p.Leu324Trp