Canonical Allele Identifier: CA470807568

Gene: PLCE1

Linked Data

• dbSNP Id: rs751378446
• gnomAD v2: 10-96053344-G-T
• gnomAD v3: 10-94293587-G-T
• gnomAD v4: 10-94293587-G-T
• MyVariant Identifiers: chr10:g.96053344G>T (hg19) ; chr10:g.94293587G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94293587G>T , CM000672.2:g.94293587G>T	GRCh38
NC_000010.10:g.96053344G>T , CM000672.1:g.96053344G>T	GRCh37
NC_000010.9:g.96043334G>T	NCBI36
NG_015799.1:g.304599G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4191G>T	ENSP00000360426.1:p.Pro1397=
ENST00000685253.1:c.*1658G>T	ENSP00000509405.1:n.*1658G>T
ENST00000685889.1:n.1850G>T
ENST00000686807.1:n.534G>T
ENST00000686954.1:c.*399G>T	ENSP00000508416.1:n.*399G>T
ENST00000688810.1:c.4143G>T	ENSP00000509140.1:p.Pro1381=
ENST00000689233.1:n.9323G>T
ENST00000690340.1:n.2788G>T
ENST00000692286.1:c.5036-4792G>T	ENSP00000509490.1:n.5036-4792G>T
ENST00000692396.1:c.5067G>T	ENSP00000508605.1:p.Pro1689=
ENST00000371380.8:c.5115G>T MANE Select	ENSP00000360431.2:p.Pro1705=
ENST00000371385.8:c.4089G>T	ENSP00000360438.4:p.Pro1363=
ENST00000674738.1:c.3670G>T
ENST00000674827.1:c.3231G>T	ENSP00000502523.1:p.Pro1077=
ENST00000675218.1:c.4191G>T	ENSP00000501910.1:p.Pro1397=
ENST00000675487.1:c.*1048G>T	ENSP00000502340.1:n.*1048G>T
ENST00000675718.1:c.4384G>T
ENST00000676102.1:c.3960G>T	ENSP00000502811.1:p.Pro1320=
ENST00000260766.7:c.5115G>T	ENSP00000260766.3:p.Pro1705=
ENST00000371375.1:c.4191G>T	ENSP00000360426.1:p.Pro1397=
ENST00000371380.7:c.5115G>T	ENSP00000360431.2:p.Pro1705=
ENST00000371385.7:c.4191G>T	ENSP00000360438.3:p.Pro1397=
NM_001165979.2:c.4191G>T	NP_001159451.1:p.Pro1397=
NM_001288989.1:c.5067G>T	NP_001275918.1:p.Pro1689=
NM_016341.3:c.5115G>T	NP_057425.3:p.Pro1705=
XM_006717885.2:c.5157G>T	XP_006717948.1:p.Pro1719=
XM_006717886.2:c.5157G>T	XP_006717949.1:p.Pro1719=
XM_006717888.2:c.5154G>T	XP_006717951.1:p.Pro1718=
XM_006717889.2:c.5109G>T	XP_006717952.1:p.Pro1703=
XM_006717890.1:c.4233G>T	XP_006717953.1:p.Pro1411=
XM_011539849.1:c.5157G>T	XP_011538151.1:p.Pro1719=
XM_011539850.1:c.4002G>T	XP_011538152.1:p.Pro1334=
XM_006717885.4:c.5157G>T	XP_006717948.1:p.Pro1719=
XM_006717888.4:c.5154G>T	XP_006717951.1:p.Pro1718=
XM_006717889.4:c.5109G>T	XP_006717952.1:p.Pro1703=
XM_006717890.3:c.4233G>T	XP_006717953.1:p.Pro1411=
XM_011539849.3:c.5157G>T	XP_011538151.1:p.Pro1719=
XM_011539850.3:c.4002G>T	XP_011538152.1:p.Pro1334=
XM_017016310.2:c.5157G>T	XP_016871799.1:p.Pro1719=
XM_017016311.2:c.5157G>T	XP_016871800.1:p.Pro1719=
XM_017016312.2:c.4143G>T	XP_016871801.1:p.Pro1381=
NM_001288989.2:c.5067G>T	NP_001275918.1:p.Pro1689=
NM_016341.4:c.5115G>T MANE Select	NP_057425.3:p.Pro1705=