Canonical Allele Identifier: CA6244060
Community Standard Title: NM_004621.6(TRPC6):c.2615T>C (p.Ile872Thr)
Gene: TRPC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.101453679A>G , CM000673.2:g.101453679A>G GRCh38
NC_000011.9:g.101324410A>G , CM000673.1:g.101324410A>G GRCh37
NC_000011.8:g.100829620A>G NCBI36
NG_011476.1:g.135250T>C
NG_011476.2:g.135250T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004621.6:c.2615T>C MANE Select NP_004612.2:p.Ile872Thr
ENST00000344327.8:c.2615T>C MANE Select ENSP00000340913.3:p.Ile872Thr
NM_004621.5:c.2615T>C NP_004612.2:p.Ile872Thr
ENST00000344327.7:c.2615T>C ENSP00000340913.3:p.Ile872Thr
ENST00000348423.8:c.2267T>C ENSP00000343672.4:p.Ile756Thr
ENST00000360497.4:c.2450T>C ENSP00000353687.4:p.Ile817Thr
ENST00000532133.5:c.2381T>C ENSP00000435574.1:p.Ile794Thr
ENST00000532184.1:n.607T>C
XM_006718898.2:c.2540T>C XP_006718961.1:p.Ile847Thr
XM_011542968.1:c.2450T>C XP_011541270.1:p.Ile817Thr
XM_011542968.3:c.2450T>C XP_011541270.1:p.Ile817Thr
XM_017018221.2:c.2267T>C XP_016873710.1:p.Ile756Thr
XR_001747948.2:n.2972T>C