Canonical Allele Identifier: CA414898982
Community Standard Title: NM_001363.5(DKC1):c.1294G>C (p.Val432Leu)
Gene: DKC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154775229G>C , CM000685.2:g.154775229G>C GRCh38
NC_000023.10:g.154003504G>C , CM000685.1:g.154003504G>C GRCh37
NC_000023.9:g.153656698G>C NCBI36
NG_009780.1:g.17474G>C , LRG_55:g.17474G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001363.5:c.1294G>C MANE Select NP_001354.1:p.Val432Leu
ENST00000369550.10:c.1294G>C MANE Select ENSP00000358563.5:p.Val432Leu
NM_001142463.2:c.1279G>C NP_001135935.1:p.Val427Leu
NM_001142463.3:c.1279G>C NP_001135935.1:p.Val427Leu
NM_001288747.1:c.*520G>C NP_001275676.1:n.*520G>C
NM_001288747.2:c.*520G>C NP_001275676.1:n.*520G>C
NM_001363.4:c.1294G>C NP_001354.1:p.Val432Leu
NR_110021.1:n.1995G>C
NR_110021.2:n.1873G>C
NR_110022.1:n.2114G>C
NR_110022.2:n.1992G>C
NR_110023.1:n.1888G>C
NR_110023.2:n.1766G>C
ENST00000369550.9:c.1294G>C ENSP00000358563.5:p.Val432Leu
ENST00000412124.5:c.552G>C
ENST00000413910.6:c.*90G>C ENSP00000400542.2:n.*90G>C
ENST00000426673.5:c.713G>C
ENST00000426673.6:c.*736G>C ENSP00000407253.3:n.*736G>C
ENST00000475966.1:n.783G>C
ENST00000481062.1:n.734G>C
ENST00000484317.6:n.1568G>C
ENST00000492372.1:n.111G>C
ENST00000492372.2:n.232G>C
ENST00000620277.4:c.*520G>C ENSP00000478387.1:n.*520G>C
ENST00000696575.1:c.1279G>C ENSP00000512730.1:p.Val427Leu
ENST00000696577.1:c.1294G>C ENSP00000512731.1:p.Val432Leu
ENST00000696578.1:c.*246G>C ENSP00000512732.1:n.*246G>C
ENST00000696579.1:n.1396G>C
ENST00000696580.1:c.1207G>C ENSP00000512733.1:p.Val403Leu
ENST00000696581.1:c.*1268G>C ENSP00000512734.1:n.*1268G>C
ENST00000696582.1:c.*500G>C ENSP00000512735.1:n.*500G>C
ENST00000696583.1:c.1255G>C ENSP00000512736.1:p.Val419Leu
ENST00000696584.1:n.1818G>C
ENST00000696585.1:n.1937G>C
ENST00000696586.1:n.1711G>C
ENST00000696587.1:c.1174G>C ENSP00000512737.1:p.Val392Leu
ENST00000696588.1:c.685G>C ENSP00000513251.1:p.Val229Leu
ENST00000696589.1:n.1069G>C
ENST00000696590.1:n.1407G>C
ENST00000696591.1:n.643G>C
ENST00000696592.1:n.2662G>C
ENST00000696627.1:c.*120G>C ENSP00000512764.1:n.*120G>C
ENST00000696628.1:c.1294G>C ENSP00000512765.1:p.Val432Leu