Canonical Allele Identifier: CA3421324
Community Standard Title: NM_020389.3(TRPC7):c.1381G>A (p.Glu461Lys)
Gene: TRPC7 HGNC NCBI
TRPC7-AS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136251847C>T , CM000667.2:g.136251847C>T GRCh38
NC_000005.9:g.135587535C>T , CM000667.1:g.135587535C>T GRCh37
NC_000005.8:g.135615434C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_020389.3:c.1381G>A (TRPC7) MANE Select NP_065122.1:p.Glu461Lys
ENST00000513104.6:c.1381G>A (TRPC7) MANE Select ENSP00000426070.2:p.Glu461Lys
NM_001167576.1:c.1033G>A (TRPC7) NP_001161048.1:p.Glu345Lys
NM_001167576.2:c.1033G>A (TRPC7) NP_001161048.1:p.Glu345Lys
NM_001167577.1:c.1198G>A (TRPC7) NP_001161049.1:p.Glu400Lys
NM_001167577.2:c.1198G>A (TRPC7) NP_001161049.1:p.Glu400Lys
NM_001376901.1:c.1216G>A (TRPC7) NP_001363830.1:p.Glu406Lys
NM_020389.2:c.1381G>A (TRPC7) NP_065122.1:p.Glu461Lys
NR_133682.1:n.59+25134C>T (TRPC7-AS2)
ENST00000352189.7:c.1033G>A (TRPC7) ENSP00000330322.5:p.Glu345Lys
ENST00000352189.8:c.1033G>A (TRPC7) ENSP00000330322.5:p.Glu345Lys
ENST00000378459.6:c.1198G>A (TRPC7) ENSP00000367720.3:p.Glu400Lys
ENST00000378459.7:c.1198G>A (TRPC7) ENSP00000367720.3:p.Glu400Lys
ENST00000502753.3:c.1216G>A (TRPC7) ENSP00000424854.3:p.Glu406Lys
ENST00000502753.4:c.1216G>A (TRPC7) ENSP00000424854.3:p.Glu406Lys
ENST00000503275.5:c.1397G>A (TRPC7) ENSP00000421571.2:n.1397G>A
ENST00000503275.6:c.*254G>A (TRPC7) ENSP00000421571.2:n.*254G>A
ENST00000513104.5:c.1381G>A (TRPC7) ENSP00000426070.1:p.Glu461Lys
ENST00000514963.5:c.816G>A (TRPC7) ENSP00000426870.2:n.816G>A
XM_011543516.1:c.1354G>A (TRPC7) XP_011541818.1:p.Glu452Lys
XM_011543517.1:c.1189G>A (TRPC7) XP_011541819.1:p.Glu397Lys
XM_011543518.1:c.1186G>A (TRPC7) XP_011541820.1:p.Glu396Lys