Canonical Allele Identifier: CA388985756

Gene: ACIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23061457C>T , CM000676.2:g.23061457C>T	GRCh38
NC_000014.8:g.23530666C>T , CM000676.1:g.23530666C>T	GRCh37
NC_000014.7:g.22600506C>T	NCBI36
NG_030461.1:g.39158G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001386863.1:c.3265G>A MANE Select	NP_001373792.1:p.Ala1089Thr
ENST00000605057.6:c.3265G>A MANE Select	ENSP00000474349.1:p.Ala1089Thr
NM_001164814.1:c.3400G>A	NP_001158286.1:p.Ala1134Thr
NM_001164815.1:c.3319G>A	NP_001158287.1:p.Ala1107Thr
NM_001164816.1:c.1258G>A	NP_001158288.1:p.Ala420Thr
NM_001164816.2:c.1258G>A	NP_001158288.1:p.Ala420Thr
NM_001164817.1:c.1165G>A	NP_001158289.1:p.Ala389Thr
NM_001164817.2:c.1165G>A	NP_001158289.1:p.Ala389Thr
NM_014977.3:c.3439G>A	NP_055792.1:p.Ala1147Thr
ENST00000262710.5:c.3439G>A	ENSP00000262710.1:p.Ala1147Thr
ENST00000338631.10:c.1258G>A	ENSP00000345541.6:p.Ala420Thr
ENST00000357481.6:c.1165G>A	ENSP00000350073.2:p.Ala389Thr
ENST00000397341.7:c.1165G>A	ENSP00000380502.3:p.Ala389Thr
ENST00000457657.5:c.3319G>A	ENSP00000405677.1:p.Ala1107Thr
ENST00000473758.5:c.2372G>A
ENST00000555053.5:c.3400G>A	ENSP00000451328.1:p.Ala1134Thr
ENST00000557515.5:c.1162G>A	ENSP00000451138.1:p.Ala388Thr
ENST00000605057.5:c.3265G>A	ENSP00000474349.1:p.Ala1089Thr
XM_005267415.2:c.3436G>A	XP_005267472.1:p.Ala1146Thr
XM_005267415.4:c.3436G>A	XP_005267472.1:p.Ala1146Thr
XM_005267416.2:c.3403G>A	XP_005267473.1:p.Ala1135Thr
XM_005267416.4:c.3403G>A	XP_005267473.1:p.Ala1135Thr
XM_005267418.1:c.1165G>A	XP_005267475.1:p.Ala389Thr
XM_011536569.1:c.3151G>A	XP_011534871.1:p.Ala1051Thr
XR_429297.2:n.4894G>A
XR_429297.4:n.4888G>A