Canonical Allele Identifier: CA8000622
Community Standard Title: NM_031478.6(TLCD3B):c.344C>T (p.Pro115Leu)
Gene: TLCD3B HGNC NCBI
C16orf92 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30026709G>A , CM000678.2:g.30026709G>A GRCh38
NC_000016.9:g.30038030G>A , CM000678.1:g.30038030G>A GRCh37
NC_000016.8:g.29945531G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_031478.6:c.344C>T (TLCD3B) MANE Select NP_113666.2:p.Pro115Leu
ENST00000380495.9:c.344C>T (TLCD3B) MANE Select ENSP00000369863.4:p.Pro115Leu
NM_001318504.1:c.194C>T (TLCD3B) NP_001305433.1:p.Pro65Leu
NM_001318504.2:c.194C>T (TLCD3B) NP_001305433.1:p.Pro65Leu
NM_001352173.1:c.602C>T (TLCD3B) NP_001339102.1:p.Pro201Leu
NM_001352173.2:c.602C>T (TLCD3B) NP_001339102.1:p.Pro201Leu
NM_001353379.1:c.312-379G>A (C16orf92) NP_001340308.1:n.312-379G>A
NM_001353379.2:c.312-379G>A (C16orf92) NP_001340308.1:n.312-379G>A
NM_031478.4:c.344C>T (TLCD3B) NP_113666.2:p.Pro115Leu
NM_031478.5:c.344C>T (TLCD3B) NP_113666.2:p.Pro115Leu
ENST00000279389.8:c.194C>T (TLCD3B) ENSP00000279389.4:p.Pro65Leu
ENST00000380495.8:c.344C>T (TLCD3B) ENSP00000369863.4:p.Pro115Leu
ENST00000561666.5:c.344C>T (TLCD3B) ENSP00000456854.1:p.Pro115Leu
ENST00000564806.1:c.194C>T (TLCD3B) ENSP00000457769.1:p.Pro65Leu
ENST00000567847.1:c.134-894G>A (C16orf92) ENSP00000458048.1:n.134-894G>A
ENST00000569198.1:c.249-379G>A (C16orf92) ENSP00000454560.1:n.249-379G>A
ENST00000569508.6:c.*259C>T (TLCD3B) ENSP00000457712.2:n.*259C>T
XM_005255613.2:c.344C>T (TLCD3B) XP_005255670.1:p.Pro115Leu
XM_005255613.3:c.344C>T (TLCD3B) XP_005255670.1:p.Pro115Leu
XM_005255614.2:c.344C>T (TLCD3B) XP_005255671.1:p.Pro115Leu
XM_005255614.3:c.344C>T (TLCD3B) XP_005255671.1:p.Pro115Leu
XM_005255615.1:c.344C>T (TLCD3B) XP_005255672.1:p.Pro115Leu
XM_005255615.3:c.344C>T (TLCD3B) XP_005255672.1:p.Pro115Leu
XM_005255616.3:c.194C>T (TLCD3B) XP_005255673.1:p.Pro65Leu
XM_011545967.1:c.449C>T (TLCD3B) XP_011544269.1:p.Pro150Leu
XM_017023750.2:c.344C>T (TLCD3B) XP_016879239.1:p.Pro115Leu
XM_017023751.1:c.344C>T (TLCD3B) XP_016879240.1:p.Pro115Leu
XM_017023752.1:c.344C>T (TLCD3B) XP_016879241.1:p.Pro115Leu
XM_017023754.1:c.194C>T (TLCD3B) XP_016879243.1:p.Pro65Leu
XM_024450162.1:c.290-894G>A (C16orf92) XP_024305930.1:n.290-894G>A
XM_024450464.1:c.449C>T (TLCD3B) XP_024306232.1:p.Pro150Leu
XM_024450465.1:c.344C>T (TLCD3B) XP_024306233.1:p.Pro115Leu
XM_024450466.1:c.194C>T (TLCD3B) XP_024306234.1:p.Pro65Leu
XR_002957776.1:n.615+32G>A (C16orf92)
XR_002957777.1:n.611+32G>A (C16orf92)
XR_002957778.1:n.535+32G>A (C16orf92)
XR_002957779.1:n.532+32G>A (C16orf92)