Canonical Allele Identifier: CA388997040

Gene: ACIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23066007C>T , CM000676.2:g.23066007C>T	GRCh38
NC_000014.8:g.23535216C>T , CM000676.1:g.23535216C>T	GRCh37
NC_000014.7:g.22605056C>T	NCBI36
NG_030461.1:g.34608G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605057.6:c.2267G>A MANE Select	ENSP00000474349.1:p.Ser756Asn
ENST00000262710.5:c.2441G>A	ENSP00000262710.1:p.Ser814Asn
ENST00000338631.10:c.260G>A	ENSP00000345541.6:p.Ser87Asn
ENST00000357481.6:c.167G>A	ENSP00000350073.2:p.Ser56Asn
ENST00000397341.7:c.167G>A	ENSP00000380502.3:p.Ser56Asn
ENST00000457657.5:c.2321G>A	ENSP00000405677.1:p.Ser774Asn
ENST00000473758.5:c.1410G>A
ENST00000555053.5:c.2441G>A	ENSP00000451328.1:p.Ser814Asn
ENST00000555566.1:c.167G>A	ENSP00000451410.1:p.Ser56Asn
ENST00000555807.1:n.490G>A
ENST00000557039.1:n.317G>A
ENST00000557515.5:c.167G>A	ENSP00000451138.1:p.Ser56Asn
ENST00000605057.5:c.2267G>A	ENSP00000474349.1:p.Ser756Asn
NM_001164814.1:c.2441G>A	NP_001158286.1:p.Ser814Asn
NM_001164815.1:c.2321G>A	NP_001158287.1:p.Ser774Asn
NM_001164816.1:c.260G>A	NP_001158288.1:p.Ser87Asn
NM_001164817.1:c.167G>A	NP_001158289.1:p.Ser56Asn
NM_014977.3:c.2441G>A	NP_055792.1:p.Ser814Asn
XM_005267415.2:c.2441G>A	XP_005267472.1:p.Ser814Asn
XM_005267416.2:c.2441G>A	XP_005267473.1:p.Ser814Asn
XM_005267418.1:c.167G>A	XP_005267475.1:p.Ser56Asn
XM_011536569.1:c.2153G>A	XP_011534871.1:p.Ser718Asn
XR_429297.2:n.3932G>A
XM_005267415.4:c.2441G>A	XP_005267472.1:p.Ser814Asn
XM_005267416.4:c.2441G>A	XP_005267473.1:p.Ser814Asn
XR_429297.4:n.3926G>A
NM_001164816.2:c.260G>A	NP_001158288.1:p.Ser87Asn
NM_001164817.2:c.167G>A	NP_001158289.1:p.Ser56Asn
NM_001386863.1:c.2267G>A MANE Select	NP_001373792.1:p.Ser756Asn