Canonical Allele Identifier: CA1932018487

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100988563C= , CM000672.2:g.100988563C=	GRCh38
NC_000010.10:g.102748320C= , CM000672.1:g.102748320C=	GRCh37
NC_000010.9:g.102738310C=	NCBI36
NG_011646.1:g.3953G=
NG_012624.1:g.6028C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.353C= MANE Select	ENSP00000309595.2:p.Ala118=
ENST00000370228.2:c.353C=	ENSP00000359248.1:p.Ala118=
ENST00000643860.1:c.353C=	ENSP00000494389.1:p.Ala118=
ENST00000646226.1:n.58+950C=
ENST00000311916.6:c.353C=	ENSP00000309595.2:p.Ala118=
ENST00000370228.1:c.353C=	ENSP00000359248.1:p.Ala118=
ENST00000459764.1:n.86+683C=
ENST00000473656.5:n.64+950C=
ENST00000476766.5:n.191+1006C=
NM_001163812.1:c.353C=	NP_001157284.1:p.Ala118=
NM_001163813.1:c.-120+950C=	NP_001157285.1:n.-120+950C=
NM_001163814.1:c.-120+950C=	NP_001157286.1:n.-120+950C=
NM_021830.4:c.353C=	NP_068602.2:p.Ala118=
XM_011539975.1:c.-58+950C=	XP_011538277.1:n.-58+950C=
XR_945788.1:n.1186C=
XM_011539975.2:c.-58+950C=	XP_011538277.1:n.-58+950C=
XM_017016437.1:c.-948C=	XP_016871926.1:n.-948C=
XR_001747142.1:n.527C=
XR_001747144.1:n.527C=
XR_002956991.1:n.527C=
XR_945788.2:n.527C=
NM_021830.5:c.353C= MANE Select	NP_068602.2:p.Ala118=
NM_001163812.2:c.353C=	NP_001157284.1:p.Ala118=
NM_001163813.2:c.-120+950C=	NP_001157285.1:n.-120+950C=
NM_001163814.2:c.-120+950C=	NP_001157286.1:n.-120+950C=
NM_001368275.1:c.-58+950C=	NP_001355204.1:n.-58+950C=
NR_160738.1:n.1021C=
NR_160739.1:n.71+950C=
NR_160740.1:n.1021C=
NR_160741.1:n.1021C=
NR_160742.1:n.1021C=