Canonical Allele Identifier: CA377640653

Gene: PLCE1

Linked Data

• MyVariant Identifiers: chr10:g.96053322A>C (hg19) ; chr10:g.94293565A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94293565A>C , CM000672.2:g.94293565A>C	GRCh38
NC_000010.10:g.96053322A>C , CM000672.1:g.96053322A>C	GRCh37
NC_000010.9:g.96043312A>C	NCBI36
NG_015799.1:g.304577A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4169A>C	ENSP00000360426.1:p.Lys1390Thr
ENST00000685253.1:c.*1636A>C	ENSP00000509405.1:n.*1636A>C
ENST00000685889.1:n.1828A>C
ENST00000686807.1:n.512A>C
ENST00000686954.1:c.*377A>C	ENSP00000508416.1:n.*377A>C
ENST00000688810.1:c.4121A>C	ENSP00000509140.1:p.Lys1374Thr
ENST00000689233.1:n.9301A>C
ENST00000690340.1:n.2766A>C
ENST00000692286.1:c.5036-4814A>C	ENSP00000509490.1:n.5036-4814A>C
ENST00000692396.1:c.5045A>C	ENSP00000508605.1:p.Lys1682Thr
ENST00000371380.8:c.5093A>C MANE Select	ENSP00000360431.2:p.Lys1698Thr
ENST00000371385.8:c.4067A>C	ENSP00000360438.4:p.Lys1356Thr
ENST00000674738.1:c.3648A>C
ENST00000674827.1:c.3209A>C	ENSP00000502523.1:p.Lys1070Thr
ENST00000675218.1:c.4169A>C	ENSP00000501910.1:p.Lys1390Thr
ENST00000675487.1:c.*1026A>C	ENSP00000502340.1:n.*1026A>C
ENST00000675718.1:c.4362A>C
ENST00000676102.1:c.3938A>C	ENSP00000502811.1:p.Lys1313Thr
ENST00000260766.7:c.5093A>C	ENSP00000260766.3:p.Lys1698Thr
ENST00000371375.1:c.4169A>C	ENSP00000360426.1:p.Lys1390Thr
ENST00000371380.7:c.5093A>C	ENSP00000360431.2:p.Lys1698Thr
ENST00000371385.7:c.4169A>C	ENSP00000360438.3:p.Lys1390Thr
NM_001165979.2:c.4169A>C	NP_001159451.1:p.Lys1390Thr
NM_001288989.1:c.5045A>C	NP_001275918.1:p.Lys1682Thr
NM_016341.3:c.5093A>C	NP_057425.3:p.Lys1698Thr
XM_006717885.2:c.5135A>C	XP_006717948.1:p.Lys1712Thr
XM_006717886.2:c.5135A>C	XP_006717949.1:p.Lys1712Thr
XM_006717888.2:c.5132A>C	XP_006717951.1:p.Lys1711Thr
XM_006717889.2:c.5087A>C	XP_006717952.1:p.Lys1696Thr
XM_006717890.1:c.4211A>C	XP_006717953.1:p.Lys1404Thr
XM_011539849.1:c.5135A>C	XP_011538151.1:p.Lys1712Thr
XM_011539850.1:c.3980A>C	XP_011538152.1:p.Lys1327Thr
XM_006717885.4:c.5135A>C	XP_006717948.1:p.Lys1712Thr
XM_006717888.4:c.5132A>C	XP_006717951.1:p.Lys1711Thr
XM_006717889.4:c.5087A>C	XP_006717952.1:p.Lys1696Thr
XM_006717890.3:c.4211A>C	XP_006717953.1:p.Lys1404Thr
XM_011539849.3:c.5135A>C	XP_011538151.1:p.Lys1712Thr
XM_011539850.3:c.3980A>C	XP_011538152.1:p.Lys1327Thr
XM_017016310.2:c.5135A>C	XP_016871799.1:p.Lys1712Thr
XM_017016311.2:c.5135A>C	XP_016871800.1:p.Lys1712Thr
XM_017016312.2:c.4121A>C	XP_016871801.1:p.Lys1374Thr
NM_001288989.2:c.5045A>C	NP_001275918.1:p.Lys1682Thr
NM_016341.4:c.5093A>C MANE Select	NP_057425.3:p.Lys1698Thr