Canonical Allele Identifier: CA389007608

Gene: ACIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23079836C>T , CM000676.2:g.23079836C>T	GRCh38
NC_000014.8:g.23549045C>T , CM000676.1:g.23549045C>T	GRCh37
NC_000014.7:g.22618885C>T	NCBI36
NG_030461.1:g.20779G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605057.6:c.1499G>A MANE Select	ENSP00000474349.1:p.Arg500Lys
ENST00000262710.5:c.1673G>A	ENSP00000262710.1:p.Arg558Lys
ENST00000457657.5:c.1553G>A	ENSP00000405677.1:p.Arg518Lys
ENST00000555053.5:c.1673G>A	ENSP00000451328.1:p.Arg558Lys
ENST00000605057.5:c.1499G>A	ENSP00000474349.1:p.Arg500Lys
NM_001164814.1:c.1673G>A	NP_001158286.1:p.Arg558Lys
NM_001164815.1:c.1553G>A	NP_001158287.1:p.Arg518Lys
NM_014977.3:c.1673G>A	NP_055792.1:p.Arg558Lys
XM_005267415.2:c.1673G>A	XP_005267472.1:p.Arg558Lys
XM_005267416.2:c.1673G>A	XP_005267473.1:p.Arg558Lys
XM_006720081.2:c.1673G>A	XP_006720144.1:p.Arg558Lys
XM_011536569.1:c.1385G>A	XP_011534871.1:p.Arg462Lys
XM_011536570.1:c.1673G>A	XP_011534872.1:p.Arg558Lys
XR_429297.2:n.1806G>A
XM_005267415.4:c.1673G>A	XP_005267472.1:p.Arg558Lys
XM_005267416.4:c.1673G>A	XP_005267473.1:p.Arg558Lys
XM_006720081.4:c.1673G>A	XP_006720144.1:p.Arg558Lys
XM_011536570.3:c.1673G>A	XP_011534872.1:p.Arg558Lys
XM_024449512.1:c.1553G>A	XP_024305280.1:p.Arg518Lys
XR_429297.4:n.1800G>A
NM_001386863.1:c.1499G>A MANE Select	NP_001373792.1:p.Arg500Lys