Canonical Allele Identifier: CA382440707
Community Standard Title: NM_004621.6(TRPC6):c.1683T>G (p.Asn561Lys)
Gene: TRPC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.101476362A>C , CM000673.2:g.101476362A>C GRCh38
NC_000011.9:g.101347093A>C , CM000673.1:g.101347093A>C GRCh37
NC_000011.8:g.100852303A>C NCBI36
NG_011476.1:g.112567T>G
NG_011476.2:g.112567T>G

Transcript Alleles

HGVS Amino-acid Change
NM_004621.6:c.1683T>G MANE Select NP_004612.2:p.Asn561Lys
ENST00000344327.8:c.1683T>G MANE Select ENSP00000340913.3:p.Asn561Lys
NM_004621.5:c.1683T>G NP_004612.2:p.Asn561Lys
ENST00000344327.7:c.1683T>G ENSP00000340913.3:p.Asn561Lys
ENST00000348423.8:c.1335T>G ENSP00000343672.4:p.Asn445Lys
ENST00000360497.4:c.1518T>G ENSP00000353687.4:p.Asn506Lys
ENST00000532133.5:c.1511-2589T>G ENSP00000435574.1:n.1511-2589T>G
XM_006718898.2:c.1683T>G XP_006718961.1:p.Asn561Lys
XM_011542968.1:c.1518T>G XP_011541270.1:p.Asn506Lys
XM_011542968.3:c.1518T>G XP_011541270.1:p.Asn506Lys
XM_011542969.1:c.1683T>G XP_011541271.1:p.Asn561Lys
XM_017018221.2:c.1335T>G XP_016873710.1:p.Asn445Lys
XR_001747948.2:n.2039T>G