Canonical Allele Identifier: CA5613340

Gene: PLCE1

Linked Data

• dbSNP Id: rs749337785
• ExAC: 10:96058307 C / T
• gnomAD: 10:96058307 C / T
• MyVariant Identifiers: chr10:g.96058307C>T (hg19) ; chr10:g.94298550C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298550C>T , CM000672.2:g.94298550C>T	GRCh38
NC_000010.10:g.96058307C>T , CM000672.1:g.96058307C>T	GRCh37
NC_000010.9:g.96048297C>T	NCBI36
NG_015799.1:g.309562C>T

Transcript Alleles

HGVS	Amino-acid change
NM_001165979.2:c.4415C>T	NP_001159451.1:p.Thr1472Ile
NM_001288989.1:c.5291C>T	NP_001275918.1:p.Thr1764Ile
NM_016341.3:c.5339C>T	NP_057425.3:p.Thr1780Ile
XM_006717885.2:c.5381C>T	XP_006717948.1:p.Thr1794Ile
XM_006717886.2:c.5381C>T	XP_006717949.1:p.Thr1794Ile
XM_006717888.2:c.5378C>T	XP_006717951.1:p.Thr1793Ile
XM_006717889.2:c.5333C>T	XP_006717952.1:p.Thr1778Ile
XM_006717890.1:c.4457C>T	XP_006717953.1:p.Thr1486Ile
XM_011539849.1:c.5381C>T	XP_011538151.1:p.Thr1794Ile
XM_011539850.1:c.4226C>T	XP_011538152.1:p.Thr1409Ile
XM_006717885.4:c.5381C>T	XP_006717948.1:p.Thr1794Ile
XM_006717888.4:c.5378C>T	XP_006717951.1:p.Thr1793Ile
XM_006717889.4:c.5333C>T	XP_006717952.1:p.Thr1778Ile
XM_006717890.3:c.4457C>T	XP_006717953.1:p.Thr1486Ile
XM_011539849.3:c.5381C>T	XP_011538151.1:p.Thr1794Ile
XM_011539850.3:c.4226C>T	XP_011538152.1:p.Thr1409Ile
XM_017016310.2:c.5381C>T	XP_016871799.1:p.Thr1794Ile
XM_017016311.2:c.5381C>T	XP_016871800.1:p.Thr1794Ile
XM_017016312.2:c.4367C>T	XP_016871801.1:p.Thr1456Ile
NM_001288989.2:c.5291C>T	NP_001275918.1:p.Thr1764Ile
NM_016341.4:c.5339C>T MANE Select	NP_057425.3:p.Thr1780Ile
ENST00000260766.7:c.5339C>T	ENSP00000260766.3:p.Thr1780Ile
ENST00000371375.1:n.4415C>T	ENSP00000360426.1:p.Thr1472Ile
ENST00000371380.7:c.5339C>T	ENSP00000360431.2:p.Thr1780Ile
ENST00000371385.7:c.4415C>T	ENSP00000360438.3:p.Thr1472Ile