Canonical Allele Identifier: CA377648413

Gene: PLCE1

Linked Data

• dbSNP Id: rs560712395
• gnomAD v3: 10-94270523-A-T
• gnomAD v4: 10-94270523-A-T
• MyVariant Identifiers: chr10:g.96030280A>T (hg19) ; chr10:g.94270523A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94270523A>T , CM000672.2:g.94270523A>T	GRCh38
NC_000010.10:g.96030280A>T , CM000672.1:g.96030280A>T	GRCh37
NC_000010.9:g.96020270A>T	NCBI36
NG_015799.1:g.281535A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.3503A>T	ENSP00000360426.1:p.Asn1168Ile
ENST00000685253.1:c.*970A>T	ENSP00000509405.1:n.*970A>T
ENST00000685889.1:n.1162A>T
ENST00000686954.1:c.4427A>T	ENSP00000508416.1:p.Asn1476Ile
ENST00000688810.1:c.3455A>T	ENSP00000509140.1:p.Asn1152Ile
ENST00000689233.1:n.4757A>T
ENST00000692286.1:c.4427A>T	ENSP00000509490.1:p.Asn1476Ile
ENST00000692396.1:c.4379A>T	ENSP00000508605.1:p.Asn1460Ile
ENST00000371380.8:c.4427A>T MANE Select	ENSP00000360431.2:p.Asn1476Ile
ENST00000371385.8:c.3401A>T	ENSP00000360438.4:p.Asn1134Ile
ENST00000674738.1:c.2832A>T
ENST00000674827.1:c.2504A>T	ENSP00000502523.1:p.Asn835Ile
ENST00000675218.1:c.3503A>T	ENSP00000501910.1:p.Asn1168Ile
ENST00000675487.1:c.*360A>T	ENSP00000502340.1:n.*360A>T
ENST00000675718.1:c.3654A>T
ENST00000676102.1:c.3272A>T	ENSP00000502811.1:p.Asn1091Ile
ENST00000260766.7:c.4427A>T	ENSP00000260766.3:p.Asn1476Ile
ENST00000371375.1:c.3503A>T	ENSP00000360426.1:p.Asn1168Ile
ENST00000371380.7:c.4427A>T	ENSP00000360431.2:p.Asn1476Ile
ENST00000371385.7:c.3503A>T	ENSP00000360438.3:p.Asn1168Ile
NM_001165979.2:c.3503A>T	NP_001159451.1:p.Asn1168Ile
NM_001288989.1:c.4379A>T	NP_001275918.1:p.Asn1460Ile
NM_016341.3:c.4427A>T	NP_057425.3:p.Asn1476Ile
XM_006717885.2:c.4427A>T	XP_006717948.1:p.Asn1476Ile
XM_006717886.2:c.4427A>T	XP_006717949.1:p.Asn1476Ile
XM_006717888.2:c.4427A>T	XP_006717951.1:p.Asn1476Ile
XM_006717889.2:c.4379A>T	XP_006717952.1:p.Asn1460Ile
XM_006717890.1:c.3503A>T	XP_006717953.1:p.Asn1168Ile
XM_011539849.1:c.4427A>T	XP_011538151.1:p.Asn1476Ile
XM_011539850.1:c.3272A>T	XP_011538152.1:p.Asn1091Ile
XM_011539851.1:c.4427A>T	XP_011538153.1:p.Asn1476Ile
XM_011539852.1:c.4427A>T	XP_011538154.1:p.Asn1476Ile
XM_006717885.4:c.4427A>T	XP_006717948.1:p.Asn1476Ile
XM_006717888.4:c.4427A>T	XP_006717951.1:p.Asn1476Ile
XM_006717889.4:c.4379A>T	XP_006717952.1:p.Asn1460Ile
XM_006717890.3:c.3503A>T	XP_006717953.1:p.Asn1168Ile
XM_011539849.3:c.4427A>T	XP_011538151.1:p.Asn1476Ile
XM_011539850.3:c.3272A>T	XP_011538152.1:p.Asn1091Ile
XM_011539851.3:c.4427A>T	XP_011538153.1:p.Asn1476Ile
XM_011539852.3:c.4427A>T	XP_011538154.1:p.Asn1476Ile
XM_017016310.2:c.4427A>T	XP_016871799.1:p.Asn1476Ile
XM_017016311.2:c.4427A>T	XP_016871800.1:p.Asn1476Ile
XM_017016312.2:c.3455A>T	XP_016871801.1:p.Asn1152Ile
NM_001288989.2:c.4379A>T	NP_001275918.1:p.Asn1460Ile
NM_016341.4:c.4427A>T MANE Select	NP_057425.3:p.Asn1476Ile