Canonical Allele Identifier: CA8147760
Community Standard Title: NM_018052.5(VAC14):c.1271G>T (p.Trp424Leu)
Gene: VAC14 HGNC NCBI
VAC14-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70762915C>A , CM000678.2:g.70762915C>A GRCh38
NC_000016.9:g.70796818C>A , CM000678.1:g.70796818C>A GRCh37
NC_000016.8:g.69354319C>A NCBI36
NG_054902.1:g.43255G>T

Transcript Alleles

HGVS Amino-acid Change
NM_018052.5:c.1271G>T (VAC14) MANE Select NP_060522.3:p.Trp424Leu
ENST00000261776.10:c.1271G>T (VAC14) MANE Select ENSP00000261776.5:p.Trp424Leu
NM_001351157.1:c.569G>T (VAC14) NP_001338086.1:p.Trp190Leu
NM_001351157.2:c.569G>T (VAC14) NP_001338086.1:p.Trp190Leu
NM_018052.3:c.1271G>T (VAC14) NP_060522.3:p.Trp424Leu
NM_018052.4:c.1271G>T (VAC14) NP_060522.3:p.Trp424Leu
NR_034083.2:n.372+1657C>A (VAC14-AS1)
NR_034083.3:n.336+1657C>A (VAC14-AS1)
ENST00000261776.9:c.1271G>T (VAC14) ENSP00000261776.5:p.Trp424Leu
ENST00000568548.5:c.*997G>T (VAC14) ENSP00000454650.1:n.*997G>T
ENST00000568886.5:c.502G>T (VAC14) ENSP00000457809.1:p.Gly168Cys
XM_005256038.2:c.1271G>T (VAC14) XP_005256095.1:p.Trp424Leu
XM_005256038.4:c.1271G>T (VAC14) XP_005256095.1:p.Trp424Leu
XM_005256041.2:c.1271G>T (VAC14) XP_005256098.2:p.Trp424Leu
XM_005256041.4:c.1271G>T (VAC14) XP_005256098.2:p.Trp424Leu
XM_011523223.1:c.1271G>T (VAC14) XP_011521525.1:p.Trp424Leu
XM_011523223.3:c.1271G>T (VAC14) XP_011521525.1:p.Trp424Leu
XM_011523224.1:c.1271G>T (VAC14) XP_011521526.1:p.Trp424Leu
XM_011523224.3:c.1271G>T (VAC14) XP_011521526.1:p.Trp424Leu
XM_011523225.1:c.1271G>T (VAC14) XP_011521527.1:p.Trp424Leu
XM_011523225.3:c.1271G>T (VAC14) XP_011521527.1:p.Trp424Leu
XM_017023441.2:c.1271G>T (VAC14) XP_016878930.1:p.Trp424Leu
XM_017023442.2:c.1271G>T (VAC14) XP_016878931.1:p.Trp424Leu