Canonical Allele Identifier: CA377641813

Gene: PLCE1

Linked Data

• MyVariant Identifiers: chr10:g.96058214T>A (hg19) ; chr10:g.94298457T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298457T>A , CM000672.2:g.94298457T>A	GRCh38
NC_000010.10:g.96058214T>A , CM000672.1:g.96058214T>A	GRCh37
NC_000010.9:g.96048204T>A	NCBI36
NG_015799.1:g.309469T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4322T>A	ENSP00000360426.1:p.Ile1441Asn
ENST00000685253.1:c.*1789T>A	ENSP00000509405.1:n.*1789T>A
ENST00000685889.1:n.1981T>A
ENST00000686807.1:n.665T>A
ENST00000686954.1:c.*530T>A	ENSP00000508416.1:n.*530T>A
ENST00000688810.1:c.4274T>A	ENSP00000509140.1:p.Ile1425Asn
ENST00000689233.1:n.9454T>A
ENST00000690340.1:n.2919T>A
ENST00000692286.1:c.5114T>A	ENSP00000509490.1:p.Ile1705Asn
ENST00000692396.1:c.5198T>A	ENSP00000508605.1:p.Ile1733Asn
ENST00000371380.8:c.5246T>A MANE Select	ENSP00000360431.2:p.Ile1749Asn
ENST00000371385.8:c.4220T>A	ENSP00000360438.4:p.Ile1407Asn
ENST00000674738.1:c.3801T>A
ENST00000674827.1:c.3362T>A	ENSP00000502523.1:p.Ile1121Asn
ENST00000675218.1:c.4322T>A	ENSP00000501910.1:p.Ile1441Asn
ENST00000675487.1:c.*1179T>A	ENSP00000502340.1:n.*1179T>A
ENST00000675718.1:c.4515T>A
ENST00000676102.1:c.4091T>A	ENSP00000502811.1:p.Ile1364Asn
ENST00000260766.7:c.5246T>A	ENSP00000260766.3:p.Ile1749Asn
ENST00000371375.1:c.4322T>A	ENSP00000360426.1:p.Ile1441Asn
ENST00000371380.7:c.5246T>A	ENSP00000360431.2:p.Ile1749Asn
ENST00000371385.7:c.4322T>A	ENSP00000360438.3:p.Ile1441Asn
NM_001165979.2:c.4322T>A	NP_001159451.1:p.Ile1441Asn
NM_001288989.1:c.5198T>A	NP_001275918.1:p.Ile1733Asn
NM_016341.3:c.5246T>A	NP_057425.3:p.Ile1749Asn
XM_006717885.2:c.5288T>A	XP_006717948.1:p.Ile1763Asn
XM_006717886.2:c.5288T>A	XP_006717949.1:p.Ile1763Asn
XM_006717888.2:c.5285T>A	XP_006717951.1:p.Ile1762Asn
XM_006717889.2:c.5240T>A	XP_006717952.1:p.Ile1747Asn
XM_006717890.1:c.4364T>A	XP_006717953.1:p.Ile1455Asn
XM_011539849.1:c.5288T>A	XP_011538151.1:p.Ile1763Asn
XM_011539850.1:c.4133T>A	XP_011538152.1:p.Ile1378Asn
XM_006717885.4:c.5288T>A	XP_006717948.1:p.Ile1763Asn
XM_006717888.4:c.5285T>A	XP_006717951.1:p.Ile1762Asn
XM_006717889.4:c.5240T>A	XP_006717952.1:p.Ile1747Asn
XM_006717890.3:c.4364T>A	XP_006717953.1:p.Ile1455Asn
XM_011539849.3:c.5288T>A	XP_011538151.1:p.Ile1763Asn
XM_011539850.3:c.4133T>A	XP_011538152.1:p.Ile1378Asn
XM_017016310.2:c.5288T>A	XP_016871799.1:p.Ile1763Asn
XM_017016311.2:c.5288T>A	XP_016871800.1:p.Ile1763Asn
XM_017016312.2:c.4274T>A	XP_016871801.1:p.Ile1425Asn
NM_001288989.2:c.5198T>A	NP_001275918.1:p.Ile1733Asn
NM_016341.4:c.5246T>A MANE Select	NP_057425.3:p.Ile1749Asn