Canonical Allele Identifier: CA1995897709
Community Standard Title: NM_004621.6(TRPC6):c.2455C= (p.Leu819=)
Gene: TRPC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.101469456G= , CM000673.2:g.101469456G= GRCh38
NC_000011.9:g.101340187G= , CM000673.1:g.101340187G= GRCh37
NC_000011.8:g.100845397G= NCBI36
NG_011476.1:g.119473C=
NG_011476.2:g.119473C=

Transcript Alleles

HGVS Amino-acid Change
NM_004621.6:c.2455C= MANE Select NP_004612.2:p.Leu819=
ENST00000344327.8:c.2455C= MANE Select ENSP00000340913.3:p.Leu819=
NM_004621.5:c.2455C= NP_004612.2:p.Leu819=
ENST00000344327.7:c.2455C= ENSP00000340913.3:p.Leu819=
ENST00000348423.8:c.2107C= ENSP00000343672.4:p.Leu703=
ENST00000360497.4:c.2290C= ENSP00000353687.4:p.Leu764=
ENST00000532133.5:c.2221C= ENSP00000435574.1:p.Leu741=
XM_006718898.2:c.2409+1727C= XP_006718961.1:n.2409+1727C=
XM_011542968.1:c.2290C= XP_011541270.1:p.Leu764=
XM_011542968.3:c.2290C= XP_011541270.1:p.Leu764=
XM_011542969.1:c.2455C= XP_011541271.1:p.Leu819=
XM_017018221.2:c.2107C= XP_016873710.1:p.Leu703=
XR_001747948.2:n.2811C=