Canonical Allele Identifier: CA377641890

Gene: PLCE1

Linked Data

• gnomAD v4: 10-94298492-A-C
• MyVariant Identifiers: chr10:g.96058249A>C (hg19) ; chr10:g.94298492A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298492A>C , CM000672.2:g.94298492A>C	GRCh38
NC_000010.10:g.96058249A>C , CM000672.1:g.96058249A>C	GRCh37
NC_000010.9:g.96048239A>C	NCBI36
NG_015799.1:g.309504A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4357A>C	ENSP00000360426.1:p.Asn1453His
ENST00000685253.1:c.*1824A>C	ENSP00000509405.1:n.*1824A>C
ENST00000685889.1:n.2016A>C
ENST00000686807.1:n.700A>C
ENST00000686954.1:c.*565A>C	ENSP00000508416.1:n.*565A>C
ENST00000688810.1:c.4309A>C	ENSP00000509140.1:p.Asn1437His
ENST00000689233.1:n.9489A>C
ENST00000690340.1:n.2954A>C
ENST00000692286.1:c.5149A>C	ENSP00000509490.1:p.Asn1717His
ENST00000692396.1:c.5233A>C	ENSP00000508605.1:p.Asn1745His
ENST00000371380.8:c.5281A>C MANE Select	ENSP00000360431.2:p.Asn1761His
ENST00000371385.8:c.4255A>C	ENSP00000360438.4:p.Asn1419His
ENST00000674738.1:c.3836A>C
ENST00000674827.1:c.3397A>C	ENSP00000502523.1:p.Asn1133His
ENST00000675218.1:c.4357A>C	ENSP00000501910.1:p.Asn1453His
ENST00000675487.1:c.*1214A>C	ENSP00000502340.1:n.*1214A>C
ENST00000675718.1:c.4550A>C
ENST00000260766.7:c.5281A>C	ENSP00000260766.3:p.Asn1761His
ENST00000371375.1:c.4357A>C	ENSP00000360426.1:p.Asn1453His
ENST00000371380.7:c.5281A>C	ENSP00000360431.2:p.Asn1761His
ENST00000371385.7:c.4357A>C	ENSP00000360438.3:p.Asn1453His
NM_001165979.2:c.4357A>C	NP_001159451.1:p.Asn1453His
NM_001288989.1:c.5233A>C	NP_001275918.1:p.Asn1745His
NM_016341.3:c.5281A>C	NP_057425.3:p.Asn1761His
XM_006717885.2:c.5323A>C	XP_006717948.1:p.Asn1775His
XM_006717886.2:c.5323A>C	XP_006717949.1:p.Asn1775His
XM_006717888.2:c.5320A>C	XP_006717951.1:p.Asn1774His
XM_006717889.2:c.5275A>C	XP_006717952.1:p.Asn1759His
XM_006717890.1:c.4399A>C	XP_006717953.1:p.Asn1467His
XM_011539849.1:c.5323A>C	XP_011538151.1:p.Asn1775His
XM_011539850.1:c.4168A>C	XP_011538152.1:p.Asn1390His
XM_006717885.4:c.5323A>C	XP_006717948.1:p.Asn1775His
XM_006717888.4:c.5320A>C	XP_006717951.1:p.Asn1774His
XM_006717889.4:c.5275A>C	XP_006717952.1:p.Asn1759His
XM_006717890.3:c.4399A>C	XP_006717953.1:p.Asn1467His
XM_011539849.3:c.5323A>C	XP_011538151.1:p.Asn1775His
XM_011539850.3:c.4168A>C	XP_011538152.1:p.Asn1390His
XM_017016310.2:c.5323A>C	XP_016871799.1:p.Asn1775His
XM_017016311.2:c.5323A>C	XP_016871800.1:p.Asn1775His
XM_017016312.2:c.4309A>C	XP_016871801.1:p.Asn1437His
NM_001288989.2:c.5233A>C	NP_001275918.1:p.Asn1745His
NM_016341.4:c.5281A>C MANE Select	NP_057425.3:p.Asn1761His