Canonical Allele Identifier: CA7110113

Gene: ACIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23066004G>A , CM000676.2:g.23066004G>A	GRCh38
NC_000014.8:g.23535213G>A , CM000676.1:g.23535213G>A	GRCh37
NC_000014.7:g.22605053G>A	NCBI36
NG_030461.1:g.34611C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605057.6:c.2270C>T MANE Select	ENSP00000474349.1:p.Ser757Leu
ENST00000262710.5:c.2444C>T	ENSP00000262710.1:p.Ser815Leu
ENST00000338631.10:c.263C>T	ENSP00000345541.6:p.Ser88Leu
ENST00000357481.6:c.170C>T	ENSP00000350073.2:p.Ser57Leu
ENST00000397341.7:c.170C>T	ENSP00000380502.3:p.Ser57Leu
ENST00000457657.5:c.2324C>T	ENSP00000405677.1:p.Ser775Leu
ENST00000473758.5:c.1413C>T
ENST00000555053.5:c.2444C>T	ENSP00000451328.1:p.Ser815Leu
ENST00000555566.1:c.170C>T	ENSP00000451410.1:p.Ser57Leu
ENST00000555807.1:n.493C>T
ENST00000557039.1:n.320C>T
ENST00000557515.5:c.170C>T	ENSP00000451138.1:p.Ser57Leu
ENST00000605057.5:c.2270C>T	ENSP00000474349.1:p.Ser757Leu
NM_001164814.1:c.2444C>T	NP_001158286.1:p.Ser815Leu
NM_001164815.1:c.2324C>T	NP_001158287.1:p.Ser775Leu
NM_001164816.1:c.263C>T	NP_001158288.1:p.Ser88Leu
NM_001164817.1:c.170C>T	NP_001158289.1:p.Ser57Leu
NM_014977.3:c.2444C>T	NP_055792.1:p.Ser815Leu
XM_005267415.2:c.2444C>T	XP_005267472.1:p.Ser815Leu
XM_005267416.2:c.2444C>T	XP_005267473.1:p.Ser815Leu
XM_005267418.1:c.170C>T	XP_005267475.1:p.Ser57Leu
XM_011536569.1:c.2156C>T	XP_011534871.1:p.Ser719Leu
XR_429297.2:n.3935C>T
XM_005267415.4:c.2444C>T	XP_005267472.1:p.Ser815Leu
XM_005267416.4:c.2444C>T	XP_005267473.1:p.Ser815Leu
XR_429297.4:n.3929C>T
NM_001164816.2:c.263C>T	NP_001158288.1:p.Ser88Leu
NM_001164817.2:c.170C>T	NP_001158289.1:p.Ser57Leu
NM_001386863.1:c.2270C>T MANE Select	NP_001373792.1:p.Ser757Leu