Canonical Allele Identifier: CA1932018571

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100988598G= , CM000672.2:g.100988598G=	GRCh38
NC_000010.10:g.102748355G= , CM000672.1:g.102748355G=	GRCh37
NC_000010.9:g.102738345G=	NCBI36
NG_011646.1:g.3918C=
NG_012624.1:g.6063G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.388G= MANE Select	ENSP00000309595.2:p.Glu130=
ENST00000370228.2:c.388G=	ENSP00000359248.1:p.Glu130=
ENST00000643860.1:c.388G=	ENSP00000494389.1:p.Glu130=
ENST00000646226.1:n.58+985G=
ENST00000311916.6:c.388G=	ENSP00000309595.2:p.Glu130=
ENST00000370228.1:c.388G=	ENSP00000359248.1:p.Glu130=
ENST00000459764.1:n.86+718G=
ENST00000473656.5:n.64+985G=
ENST00000476766.5:n.191+1041G=
NM_001163812.1:c.388G=	NP_001157284.1:p.Glu130=
NM_001163813.1:c.-120+985G=	NP_001157285.1:n.-120+985G=
NM_001163814.1:c.-120+985G=	NP_001157286.1:n.-120+985G=
NM_021830.4:c.388G=	NP_068602.2:p.Glu130=
XM_011539975.1:c.-58+985G=	XP_011538277.1:n.-58+985G=
XR_945788.1:n.1221G=
XM_011539975.2:c.-58+985G=	XP_011538277.1:n.-58+985G=
XM_017016437.1:c.-913G=	XP_016871926.1:n.-913G=
XR_001747142.1:n.562G=
XR_001747144.1:n.562G=
XR_002956991.1:n.562G=
XR_945788.2:n.562G=
NM_021830.5:c.388G= MANE Select	NP_068602.2:p.Glu130=
NM_001163812.2:c.388G=	NP_001157284.1:p.Glu130=
NM_001163813.2:c.-120+985G=	NP_001157285.1:n.-120+985G=
NM_001163814.2:c.-120+985G=	NP_001157286.1:n.-120+985G=
NM_001368275.1:c.-58+985G=	NP_001355204.1:n.-58+985G=
NR_160738.1:n.1056G=
NR_160739.1:n.71+985G=
NR_160740.1:n.1056G=
NR_160741.1:n.1056G=
NR_160742.1:n.1056G=