Canonical Allele Identifier: CA7109748

Gene: ACIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23059212G>A , CM000676.2:g.23059212G>A	GRCh38
NC_000014.8:g.23528421G>A , CM000676.1:g.23528421G>A	GRCh37
NC_000014.7:g.22598261G>A	NCBI36
NG_030461.1:g.41403C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001386863.1:c.3788C>T MANE Select	NP_001373792.1:p.Thr1263Ile
ENST00000605057.6:c.3788C>T MANE Select	ENSP00000474349.1:p.Thr1263Ile
NM_001164814.1:c.3923C>T	NP_001158286.1:p.Thr1308Ile
NM_001164815.1:c.3842C>T	NP_001158287.1:p.Thr1281Ile
NM_001164816.1:c.1781C>T	NP_001158288.1:p.Thr594Ile
NM_001164816.2:c.1781C>T	NP_001158288.1:p.Thr594Ile
NM_001164817.1:c.1688C>T	NP_001158289.1:p.Thr563Ile
NM_001164817.2:c.1688C>T	NP_001158289.1:p.Thr563Ile
NM_014977.3:c.3962C>T	NP_055792.1:p.Thr1321Ile
ENST00000262710.5:c.3962C>T	ENSP00000262710.1:p.Thr1321Ile
ENST00000338631.10:c.1781C>T	ENSP00000345541.6:p.Thr594Ile
ENST00000357481.6:c.1688C>T	ENSP00000350073.2:p.Thr563Ile
ENST00000397341.7:c.1688C>T	ENSP00000380502.3:p.Thr563Ile
ENST00000457657.5:c.3842C>T	ENSP00000405677.1:p.Thr1281Ile
ENST00000473758.5:c.2895C>T
ENST00000555053.5:c.3923C>T	ENSP00000451328.1:p.Thr1308Ile
ENST00000557515.5:c.1685C>T	ENSP00000451138.1:p.Thr562Ile
ENST00000605057.5:c.3788C>T	ENSP00000474349.1:p.Thr1263Ile
XM_005267415.2:c.3959C>T	XP_005267472.1:p.Thr1320Ile
XM_005267415.4:c.3959C>T	XP_005267472.1:p.Thr1320Ile
XM_005267416.2:c.3926C>T	XP_005267473.1:p.Thr1309Ile
XM_005267416.4:c.3926C>T	XP_005267473.1:p.Thr1309Ile
XM_005267418.1:c.1688C>T	XP_005267475.1:p.Thr563Ile
XM_011536569.1:c.3674C>T	XP_011534871.1:p.Thr1225Ile
XR_429297.2:n.5417C>T
XR_429297.4:n.5411C>T