Canonical Allele Identifier: CA377640720

Gene: PLCE1

Linked Data

• gnomAD v4: 10-94293580-A-T
• MyVariant Identifiers: chr10:g.96053337A>T (hg19) ; chr10:g.94293580A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94293580A>T , CM000672.2:g.94293580A>T	GRCh38
NC_000010.10:g.96053337A>T , CM000672.1:g.96053337A>T	GRCh37
NC_000010.9:g.96043327A>T	NCBI36
NG_015799.1:g.304592A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4184A>T	ENSP00000360426.1:p.Asn1395Ile
ENST00000685253.1:c.*1651A>T	ENSP00000509405.1:n.*1651A>T
ENST00000685889.1:n.1843A>T
ENST00000686807.1:n.527A>T
ENST00000686954.1:c.*392A>T	ENSP00000508416.1:n.*392A>T
ENST00000688810.1:c.4136A>T	ENSP00000509140.1:p.Asn1379Ile
ENST00000689233.1:n.9316A>T
ENST00000690340.1:n.2781A>T
ENST00000692286.1:c.5036-4799A>T	ENSP00000509490.1:n.5036-4799A>T
ENST00000692396.1:c.5060A>T	ENSP00000508605.1:p.Asn1687Ile
ENST00000371380.8:c.5108A>T MANE Select	ENSP00000360431.2:p.Asn1703Ile
ENST00000371385.8:c.4082A>T	ENSP00000360438.4:p.Asn1361Ile
ENST00000674738.1:c.3663A>T
ENST00000674827.1:c.3224A>T	ENSP00000502523.1:p.Asn1075Ile
ENST00000675218.1:c.4184A>T	ENSP00000501910.1:p.Asn1395Ile
ENST00000675487.1:c.*1041A>T	ENSP00000502340.1:n.*1041A>T
ENST00000675718.1:c.4377A>T
ENST00000676102.1:c.3953A>T	ENSP00000502811.1:p.Asn1318Ile
ENST00000260766.7:c.5108A>T	ENSP00000260766.3:p.Asn1703Ile
ENST00000371375.1:c.4184A>T	ENSP00000360426.1:p.Asn1395Ile
ENST00000371380.7:c.5108A>T	ENSP00000360431.2:p.Asn1703Ile
ENST00000371385.7:c.4184A>T	ENSP00000360438.3:p.Asn1395Ile
NM_001165979.2:c.4184A>T	NP_001159451.1:p.Asn1395Ile
NM_001288989.1:c.5060A>T	NP_001275918.1:p.Asn1687Ile
NM_016341.3:c.5108A>T	NP_057425.3:p.Asn1703Ile
XM_006717885.2:c.5150A>T	XP_006717948.1:p.Asn1717Ile
XM_006717886.2:c.5150A>T	XP_006717949.1:p.Asn1717Ile
XM_006717888.2:c.5147A>T	XP_006717951.1:p.Asn1716Ile
XM_006717889.2:c.5102A>T	XP_006717952.1:p.Asn1701Ile
XM_006717890.1:c.4226A>T	XP_006717953.1:p.Asn1409Ile
XM_011539849.1:c.5150A>T	XP_011538151.1:p.Asn1717Ile
XM_011539850.1:c.3995A>T	XP_011538152.1:p.Asn1332Ile
XM_006717885.4:c.5150A>T	XP_006717948.1:p.Asn1717Ile
XM_006717888.4:c.5147A>T	XP_006717951.1:p.Asn1716Ile
XM_006717889.4:c.5102A>T	XP_006717952.1:p.Asn1701Ile
XM_006717890.3:c.4226A>T	XP_006717953.1:p.Asn1409Ile
XM_011539849.3:c.5150A>T	XP_011538151.1:p.Asn1717Ile
XM_011539850.3:c.3995A>T	XP_011538152.1:p.Asn1332Ile
XM_017016310.2:c.5150A>T	XP_016871799.1:p.Asn1717Ile
XM_017016311.2:c.5150A>T	XP_016871800.1:p.Asn1717Ile
XM_017016312.2:c.4136A>T	XP_016871801.1:p.Asn1379Ile
NM_001288989.2:c.5060A>T	NP_001275918.1:p.Asn1687Ile
NM_016341.4:c.5108A>T MANE Select	NP_057425.3:p.Asn1703Ile