Canonical Allele Identifier: CA1932023228

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100990618T= , CM000672.2:g.100990618T=	GRCh38
NC_000010.10:g.102750375T= , CM000672.1:g.102750375T=	GRCh37
NC_000010.9:g.102740365T=	NCBI36
NG_011646.1:g.1898A=
NG_012624.1:g.8083T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1592+75T= MANE Select	ENSP00000309595.2:n.1592+75T=
ENST00000370228.2:c.1592+75T=	ENSP00000359248.1:n.1592+75T=
ENST00000643860.1:c.*71T=	ENSP00000494389.1:n.*71T=
ENST00000646226.1:n.407+75T=
ENST00000647109.1:c.251+75T=
ENST00000650396.1:c.628T=
ENST00000311916.6:c.1592+75T=	ENSP00000309595.2:n.1592+75T=
ENST00000370228.1:c.1592+75T=	ENSP00000359248.1:n.1592+75T=
ENST00000473656.5:n.413+75T=
ENST00000476766.5:n.478+75T=
NM_001163812.1:c.1592+75T=	NP_001157284.1:n.1592+75T=
NM_001163813.1:c.230+75T=	NP_001157285.1:n.230+75T=
NM_001163814.1:c.230+75T=	NP_001157286.1:n.230+75T=
NM_021830.4:c.1592+75T=	NP_068602.2:n.1592+75T=
XM_011539974.1:c.230+75T=	XP_011538276.1:n.230+75T=
XM_011539975.1:c.230+75T=	XP_011538277.1:n.230+75T=
XR_945788.1:n.2363+75T=
XM_011539975.2:c.230+75T=	XP_011538277.1:n.230+75T=
XM_017016437.1:c.230+75T=	XP_016871926.1:n.230+75T=
XR_001747142.1:n.1841T=
XR_001747144.1:n.1779T=
XR_002956991.1:n.1704+75T=
XR_945788.2:n.1704+75T=
NM_021830.5:c.1592+75T= MANE Select	NP_068602.2:n.1592+75T=
NM_001163812.2:c.1592+75T=	NP_001157284.1:n.1592+75T=
NM_001163813.2:c.230+75T=	NP_001157285.1:n.230+75T=
NM_001163814.2:c.230+75T=	NP_001157286.1:n.230+75T=
NM_001368275.1:c.230+75T=	NP_001355204.1:n.230+75T=
NR_160738.1:n.2335T=
NR_160739.1:n.495T=
NR_160740.1:n.2198+75T=
NR_160741.1:n.2198+75T=
NR_160742.1:n.2273T=