Canonical Allele Identifier: CA1932023213

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100990594C= , CM000672.2:g.100990594C=	GRCh38
NC_000010.10:g.102750351C= , CM000672.1:g.102750351C=	GRCh37
NC_000010.9:g.102740341C=	NCBI36
NG_011646.1:g.1922G=
NG_012624.1:g.8059C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1592+51C= MANE Select	ENSP00000309595.2:n.1592+51C=
ENST00000370228.2:c.1592+51C=	ENSP00000359248.1:n.1592+51C=
ENST00000643860.1:c.*47C=	ENSP00000494389.1:n.*47C=
ENST00000646226.1:n.407+51C=
ENST00000647109.1:c.251+51C=
ENST00000650396.1:c.604C=
ENST00000311916.6:c.1592+51C=	ENSP00000309595.2:n.1592+51C=
ENST00000370228.1:c.1592+51C=	ENSP00000359248.1:n.1592+51C=
ENST00000473656.5:n.413+51C=
ENST00000476766.5:n.478+51C=
NM_001163812.1:c.1592+51C=	NP_001157284.1:n.1592+51C=
NM_001163813.1:c.230+51C=	NP_001157285.1:n.230+51C=
NM_001163814.1:c.230+51C=	NP_001157286.1:n.230+51C=
NM_021830.4:c.1592+51C=	NP_068602.2:n.1592+51C=
XM_011539974.1:c.230+51C=	XP_011538276.1:n.230+51C=
XM_011539975.1:c.230+51C=	XP_011538277.1:n.230+51C=
XR_945788.1:n.2363+51C=
XM_011539975.2:c.230+51C=	XP_011538277.1:n.230+51C=
XM_017016437.1:c.230+51C=	XP_016871926.1:n.230+51C=
XR_001747142.1:n.1817C=
XR_001747144.1:n.1755C=
XR_002956991.1:n.1704+51C=
XR_945788.2:n.1704+51C=
NM_021830.5:c.1592+51C= MANE Select	NP_068602.2:n.1592+51C=
NM_001163812.2:c.1592+51C=	NP_001157284.1:n.1592+51C=
NM_001163813.2:c.230+51C=	NP_001157285.1:n.230+51C=
NM_001163814.2:c.230+51C=	NP_001157286.1:n.230+51C=
NM_001368275.1:c.230+51C=	NP_001355204.1:n.230+51C=
NR_160738.1:n.2311C=
NR_160739.1:n.471C=
NR_160740.1:n.2198+51C=
NR_160741.1:n.2198+51C=
NR_160742.1:n.2249C=