Canonical Allele Identifier: CA7109974
Gene: ACIN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23063024C>T , CM000676.2:g.23063024C>T GRCh38
NC_000014.8:g.23532233C>T , CM000676.1:g.23532233C>T GRCh37
NC_000014.7:g.22602073C>T NCBI36
NG_030461.1:g.37591G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001386863.1:c.2788G>A MANE Select NP_001373792.1:p.Gly930Arg
ENST00000605057.6:c.2788G>A MANE Select ENSP00000474349.1:p.Gly930Arg
NM_001164814.1:c.2923G>A NP_001158286.1:p.Gly975Arg
NM_001164815.1:c.2842G>A NP_001158287.1:p.Gly948Arg
NM_001164816.1:c.781G>A NP_001158288.1:p.Gly261Arg
NM_001164816.2:c.781G>A NP_001158288.1:p.Gly261Arg
NM_001164817.1:c.688G>A NP_001158289.1:p.Gly230Arg
NM_001164817.2:c.688G>A NP_001158289.1:p.Gly230Arg
NM_014977.3:c.2962G>A NP_055792.1:p.Gly988Arg
ENST00000262710.5:c.2962G>A ENSP00000262710.1:p.Gly988Arg
ENST00000338631.10:c.781G>A ENSP00000345541.6:p.Gly261Arg
ENST00000357481.6:c.688G>A ENSP00000350073.2:p.Gly230Arg
ENST00000397341.7:c.688G>A ENSP00000380502.3:p.Gly230Arg
ENST00000457657.5:c.2842G>A ENSP00000405677.1:p.Gly948Arg
ENST00000473758.5:c.1895G>A
ENST00000554680.5:n.702G>A
ENST00000555053.5:c.2923G>A ENSP00000451328.1:p.Gly975Arg
ENST00000555478.5:n.585G>A
ENST00000557515.5:c.685G>A ENSP00000451138.1:p.Gly229Arg
ENST00000605057.5:c.2788G>A ENSP00000474349.1:p.Gly930Arg
XM_005267415.2:c.2959G>A XP_005267472.1:p.Gly987Arg
XM_005267415.4:c.2959G>A XP_005267472.1:p.Gly987Arg
XM_005267416.2:c.2926G>A XP_005267473.1:p.Gly976Arg
XM_005267416.4:c.2926G>A XP_005267473.1:p.Gly976Arg
XM_005267418.1:c.688G>A XP_005267475.1:p.Gly230Arg
XM_011536569.1:c.2674G>A XP_011534871.1:p.Gly892Arg
XR_429297.2:n.4417G>A
XR_429297.4:n.4411G>A