Canonical Allele Identifier: CA1878805648
Community Standard Title: NM_001282680.3(GAPVD1):c.-150+7331C>T
Gene: GAPVD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.125276315C>T , CM000671.2:g.125276315C>T GRCh38
NC_000009.11:g.128038594C>T , CM000671.1:g.128038594C>T GRCh37
NC_000009.10:g.127078415C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001282680.3:c.-150+7331C>T MANE Select NP_001269609.1:n.-150+7331C>T
ENST00000297933.11:c.-150+7331C>T MANE Select ENSP00000297933.6:n.-150+7331C>T
NM_001282679.1:c.-150+7331C>T NP_001269608.1:n.-150+7331C>T
NM_001282679.2:c.-150+7331C>T NP_001269608.1:n.-150+7331C>T
NM_001282680.1:c.-150+7331C>T NP_001269609.1:n.-150+7331C>T
NM_001282680.2:c.-150+7331C>T NP_001269609.1:n.-150+7331C>T
NM_001282681.2:c.-33+14356C>T NP_001269610.1:n.-33+14356C>T
NM_001282681.3:c.-33+14356C>T NP_001269610.1:n.-33+14356C>T
NM_001330777.2:c.-33+7331C>T NP_001317706.1:n.-33+7331C>T
NM_001330777.3:c.-33+7331C>T NP_001317706.1:n.-33+7331C>T
NM_001330778.2:c.-33+14356C>T NP_001317707.1:n.-33+14356C>T
NM_001330778.3:c.-33+14356C>T NP_001317707.1:n.-33+14356C>T
NM_001354293.1:c.-150+7331C>T NP_001341222.1:n.-150+7331C>T
NM_001354293.2:c.-150+7331C>T NP_001341222.1:n.-150+7331C>T
NM_001354294.1:c.-33+14356C>T NP_001341223.1:n.-33+14356C>T
NM_001354294.2:c.-33+14356C>T NP_001341223.1:n.-33+14356C>T
NM_001354295.1:c.-33+7331C>T NP_001341224.1:n.-33+7331C>T
NM_001354295.2:c.-33+7331C>T NP_001341224.1:n.-33+7331C>T
NM_001354296.1:c.-33+7331C>T NP_001341225.1:n.-33+7331C>T
NM_001354296.2:c.-33+7331C>T NP_001341225.1:n.-33+7331C>T
NM_001354297.1:c.-155+7331C>T NP_001341226.1:n.-155+7331C>T
NM_001354297.2:c.-155+7331C>T NP_001341226.1:n.-155+7331C>T
NM_001354298.1:c.-33+14356C>T NP_001341227.1:n.-33+14356C>T
NM_001354298.2:c.-33+14356C>T NP_001341227.1:n.-33+14356C>T
NM_001354299.1:c.-242+7331C>T NP_001341228.1:n.-242+7331C>T
NM_001354299.2:c.-242+7331C>T NP_001341228.1:n.-242+7331C>T
NM_001354300.1:c.-33+7331C>T NP_001341229.1:n.-33+7331C>T
NM_001354300.2:c.-33+7331C>T NP_001341229.1:n.-33+7331C>T
NM_001354301.1:c.-155+7331C>T NP_001341230.1:n.-155+7331C>T
NM_001354301.2:c.-155+7331C>T NP_001341230.1:n.-155+7331C>T
NM_015635.3:c.-33+14356C>T NP_056450.2:n.-33+14356C>T
NM_015635.4:c.-33+14356C>T NP_056450.2:n.-33+14356C>T
NR_148732.1:n.365+7331C>T
NR_148732.2:n.333+7331C>T
NR_148733.1:n.215+7331C>T
NR_148733.2:n.183+7331C>T
ENST00000297933.10:c.-150+7331C>T ENSP00000297933.6:n.-150+7331C>T
ENST00000394083.6:c.-33+14356C>T ENSP00000377645.2:n.-33+14356C>T
ENST00000394084.5:c.-150+7331C>T ENSP00000377646.1:n.-150+7331C>T
ENST00000394105.6:c.-33+14356C>T ENSP00000377665.2:n.-33+14356C>T
ENST00000461379.5:c.-33+7331C>T ENSP00000418969.1:n.-33+7331C>T
ENST00000467750.5:c.-150+14356C>T ENSP00000418747.1:n.-150+14356C>T
ENST00000469528.5:n.280-11447C>T
ENST00000470056.5:c.-33+14356C>T ENSP00000419767.1:n.-33+14356C>T
ENST00000495955.5:c.-150+7331C>T ENSP00000419063.1:n.-150+7331C>T
ENST00000497580.5:c.-33+14356C>T ENSP00000419799.1:n.-33+14356C>T
XM_005251901.2:c.-33+7331C>T XP_005251958.1:n.-33+7331C>T
XM_005251904.2:c.-33+7331C>T XP_005251961.1:n.-33+7331C>T
XM_005251904.3:c.-33+7331C>T XP_005251961.1:n.-33+7331C>T
XM_006717044.2:c.-33+7331C>T XP_006717107.1:n.-33+7331C>T
XM_011518499.1:c.-33+7331C>T XP_011516801.1:n.-33+7331C>T
XM_011518499.2:c.-33+7331C>T XP_011516801.1:n.-33+7331C>T
XM_011518500.1:c.-150+7331C>T XP_011516802.1:n.-150+7331C>T
XM_011518500.2:c.-150+7331C>T XP_011516802.1:n.-150+7331C>T
XM_011518501.1:c.-33+7331C>T XP_011516803.1:n.-33+7331C>T
XM_011518502.1:c.-33+7331C>T XP_011516804.1:n.-33+7331C>T
XM_011518502.2:c.-33+7331C>T XP_011516804.1:n.-33+7331C>T
XM_011518503.1:c.-125+15422C>T XP_011516805.1:n.-125+15422C>T
XM_011518504.1:c.-33+19186C>T XP_011516806.1:n.-33+19186C>T
XM_011518505.1:c.-34+12614C>T XP_011516807.1:n.-34+12614C>T
XM_011518506.1:c.-33+7331C>T XP_011516808.1:n.-33+7331C>T
XM_011518506.2:c.-33+7331C>T XP_011516808.1:n.-33+7331C>T
XM_011518507.1:c.-33+7331C>T XP_011516809.1:n.-33+7331C>T
XM_011518507.2:c.-33+7331C>T XP_011516809.1:n.-33+7331C>T
XM_011518508.1:c.-34+14355C>T XP_011516810.1:n.-34+14355C>T
XM_017014606.1:c.-150+7331C>T XP_016870095.1:n.-150+7331C>T
XM_017014609.1:c.-150+7331C>T XP_016870098.1:n.-150+7331C>T
XM_024447502.1:c.-2399+14356C>T XP_024303270.1:n.-2399+14356C>T
XR_001746267.2:n.128+14356C>T
XR_001746268.1:n.122-11447C>T