Canonical Allele Identifier: CA5653372

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100993408G>A , CM000672.2:g.100993408G>A	GRCh38
NC_000010.10:g.102753165G>A , CM000672.1:g.102753165G>A	GRCh37
NC_000010.9:g.102743155G>A	NCBI36
NG_012624.1:g.10873G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_021830.5:c.1953G>A MANE Select	NP_068602.2:p.Lys651=
ENST00000311916.8:c.1953G>A MANE Select	ENSP00000309595.2:p.Lys651=
NM_001163812.1:c.*248G>A	NP_001157284.1:n.*248G>A
NM_001163812.2:c.*248G>A	NP_001157284.1:n.*248G>A
NM_001163813.1:c.591G>A	NP_001157285.1:p.Lys197=
NM_001163813.2:c.591G>A	NP_001157285.1:p.Lys197=
NM_001163814.1:c.*248G>A	NP_001157286.1:n.*248G>A
NM_001163814.2:c.*248G>A	NP_001157286.1:n.*248G>A
NM_001368275.1:c.591G>A	NP_001355204.1:p.Lys197=
NM_021830.4:c.1953G>A	NP_068602.2:p.Lys651=
NR_160738.1:n.2741G>A
NR_160739.1:n.945G>A
NR_160740.1:n.2603G>A
NR_160741.1:n.2559G>A
NR_160742.1:n.2723G>A
ENST00000311916.6:c.1953G>A	ENSP00000309595.2:p.Lys651=
ENST00000370228.1:c.*248G>A	ENSP00000359248.1:n.*248G>A
ENST00000370228.2:c.*248G>A	ENSP00000359248.1:n.*248G>A
ENST00000473656.5:n.774G>A
ENST00000643860.1:c.*477G>A	ENSP00000494389.1:n.*477G>A
ENST00000647109.1:c.656G>A
ENST00000650396.1:c.1078G>A
XM_011539974.1:c.591G>A	XP_011538276.1:p.Lys197=
XM_011539975.1:c.591G>A	XP_011538277.1:p.Lys197=
XM_011539975.2:c.591G>A	XP_011538277.1:p.Lys197=
XM_017016437.1:c.591G>A	XP_016871926.1:p.Lys197=
XR_001747142.1:n.2247G>A
XR_001747144.1:n.2229G>A
XR_002956991.1:n.2065G>A
XR_945788.2:n.2109G>A