Canonical Allele Identifier: CA388988294

Gene: ACIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23062484C>T , CM000676.2:g.23062484C>T	GRCh38
NC_000014.8:g.23531693C>T , CM000676.1:g.23531693C>T	GRCh37
NC_000014.7:g.22601533C>T	NCBI36
NG_030461.1:g.38131G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001386863.1:c.2923G>A MANE Select	NP_001373792.1:p.Gly975Arg
ENST00000605057.6:c.2923G>A MANE Select	ENSP00000474349.1:p.Gly975Arg
NM_001164814.1:c.3058G>A	NP_001158286.1:p.Gly1020Arg
NM_001164815.1:c.2977G>A	NP_001158287.1:p.Gly993Arg
NM_001164816.1:c.916G>A	NP_001158288.1:p.Gly306Arg
NM_001164816.2:c.916G>A	NP_001158288.1:p.Gly306Arg
NM_001164817.1:c.823G>A	NP_001158289.1:p.Gly275Arg
NM_001164817.2:c.823G>A	NP_001158289.1:p.Gly275Arg
NM_014977.3:c.3097G>A	NP_055792.1:p.Gly1033Arg
ENST00000262710.5:c.3097G>A	ENSP00000262710.1:p.Gly1033Arg
ENST00000338631.10:c.916G>A	ENSP00000345541.6:p.Gly306Arg
ENST00000357481.6:c.823G>A	ENSP00000350073.2:p.Gly275Arg
ENST00000397341.7:c.823G>A	ENSP00000380502.3:p.Gly275Arg
ENST00000457657.5:c.2977G>A	ENSP00000405677.1:p.Gly993Arg
ENST00000473758.5:c.2030G>A
ENST00000554680.5:n.837G>A
ENST00000555053.5:c.3058G>A	ENSP00000451328.1:p.Gly1020Arg
ENST00000555395.1:n.287G>A
ENST00000555478.5:n.720G>A
ENST00000557515.5:c.820G>A	ENSP00000451138.1:p.Gly274Arg
ENST00000605057.5:c.2923G>A	ENSP00000474349.1:p.Gly975Arg
XM_005267415.2:c.3094G>A	XP_005267472.1:p.Gly1032Arg
XM_005267415.4:c.3094G>A	XP_005267472.1:p.Gly1032Arg
XM_005267416.2:c.3061G>A	XP_005267473.1:p.Gly1021Arg
XM_005267416.4:c.3061G>A	XP_005267473.1:p.Gly1021Arg
XM_005267418.1:c.823G>A	XP_005267475.1:p.Gly275Arg
XM_011536569.1:c.2809G>A	XP_011534871.1:p.Gly937Arg
XR_429297.2:n.4552G>A
XR_429297.4:n.4546G>A