Canonical Allele Identifier: CA377642342

Gene: PLCE1

Linked Data

• MyVariant Identifiers: chr10:g.96058415A>T (hg19) ; chr10:g.94298658A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298658A>T , CM000672.2:g.94298658A>T	GRCh38
NC_000010.10:g.96058415A>T , CM000672.1:g.96058415A>T	GRCh37
NC_000010.9:g.96048405A>T	NCBI36
NG_015799.1:g.309670A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4523A>T	ENSP00000360426.1:p.Tyr1508Phe
ENST00000685253.1:c.*1990A>T	ENSP00000509405.1:n.*1990A>T
ENST00000685889.1:n.2182A>T
ENST00000686807.1:n.866A>T
ENST00000686954.1:c.*731A>T	ENSP00000508416.1:n.*731A>T
ENST00000688810.1:c.4475A>T	ENSP00000509140.1:p.Tyr1492Phe
ENST00000689233.1:n.9655A>T
ENST00000690340.1:n.3120A>T
ENST00000692286.1:c.5315A>T	ENSP00000509490.1:p.Tyr1772Phe
ENST00000692396.1:c.5399A>T	ENSP00000508605.1:p.Tyr1800Phe
ENST00000371380.8:c.5447A>T MANE Select	ENSP00000360431.2:p.Tyr1816Phe
ENST00000371385.8:c.4421A>T	ENSP00000360438.4:p.Tyr1474Phe
ENST00000674738.1:c.4002A>T
ENST00000674827.1:c.3563A>T	ENSP00000502523.1:p.Tyr1188Phe
ENST00000675218.1:c.4523A>T	ENSP00000501910.1:p.Tyr1508Phe
ENST00000675487.1:c.*1380A>T	ENSP00000502340.1:n.*1380A>T
ENST00000675718.1:c.4716A>T
ENST00000260766.7:c.5447A>T	ENSP00000260766.3:p.Tyr1816Phe
ENST00000371375.1:c.4523A>T	ENSP00000360426.1:p.Tyr1508Phe
ENST00000371380.7:c.5447A>T	ENSP00000360431.2:p.Tyr1816Phe
ENST00000371385.7:c.4523A>T	ENSP00000360438.3:p.Tyr1508Phe
NM_001165979.2:c.4523A>T	NP_001159451.1:p.Tyr1508Phe
NM_001288989.1:c.5399A>T	NP_001275918.1:p.Tyr1800Phe
NM_016341.3:c.5447A>T	NP_057425.3:p.Tyr1816Phe
XM_006717885.2:c.5489A>T	XP_006717948.1:p.Tyr1830Phe
XM_006717886.2:c.5489A>T	XP_006717949.1:p.Tyr1830Phe
XM_006717888.2:c.5486A>T	XP_006717951.1:p.Tyr1829Phe
XM_006717889.2:c.5441A>T	XP_006717952.1:p.Tyr1814Phe
XM_006717890.1:c.4565A>T	XP_006717953.1:p.Tyr1522Phe
XM_011539849.1:c.5489A>T	XP_011538151.1:p.Tyr1830Phe
XM_011539850.1:c.4334A>T	XP_011538152.1:p.Tyr1445Phe
XM_006717885.4:c.5489A>T	XP_006717948.1:p.Tyr1830Phe
XM_006717888.4:c.5486A>T	XP_006717951.1:p.Tyr1829Phe
XM_006717889.4:c.5441A>T	XP_006717952.1:p.Tyr1814Phe
XM_006717890.3:c.4565A>T	XP_006717953.1:p.Tyr1522Phe
XM_011539849.3:c.5489A>T	XP_011538151.1:p.Tyr1830Phe
XM_011539850.3:c.4334A>T	XP_011538152.1:p.Tyr1445Phe
XM_017016310.2:c.5489A>T	XP_016871799.1:p.Tyr1830Phe
XM_017016311.2:c.5489A>T	XP_016871800.1:p.Tyr1830Phe
XM_017016312.2:c.4475A>T	XP_016871801.1:p.Tyr1492Phe
NM_001288989.2:c.5399A>T	NP_001275918.1:p.Tyr1800Phe
NM_016341.4:c.5447A>T MANE Select	NP_057425.3:p.Tyr1816Phe