Canonical Allele Identifier: CA1932021979

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989871C= , CM000672.2:g.100989871C=	GRCh38
NC_000010.10:g.102749628C= , CM000672.1:g.102749628C=	GRCh37
NC_000010.9:g.102739618C=	NCBI36
NG_011646.1:g.2645G=
NG_012624.1:g.7336C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1471C= MANE Select	ENSP00000309595.2:p.Gln491=
ENST00000370228.2:c.1471C=	ENSP00000359248.1:p.Gln491=
ENST00000643860.1:c.1471C=	ENSP00000494389.1:p.Gln491=
ENST00000646226.1:n.286C=
ENST00000647109.1:c.130C=
ENST00000650396.1:c.432C=
ENST00000311916.6:c.1471C=	ENSP00000309595.2:p.Gln491=
ENST00000370228.1:c.1471C=	ENSP00000359248.1:p.Gln491=
ENST00000459764.1:n.314C=
ENST00000473656.5:n.292C=
ENST00000476766.5:n.357C=
NM_001163812.1:c.1471C=	NP_001157284.1:p.Gln491=
NM_001163813.1:c.109C=	NP_001157285.1:p.Gln37=
NM_001163814.1:c.109C=	NP_001157286.1:p.Gln37=
NM_021830.4:c.1471C=	NP_068602.2:p.Gln491=
XM_011539974.1:c.109C=	XP_011538276.1:p.Gln37=
XM_011539975.1:c.109C=	XP_011538277.1:p.Gln37=
XR_945788.1:n.2242C=
XM_011539975.2:c.109C=	XP_011538277.1:p.Gln37=
XM_017016437.1:c.109C=	XP_016871926.1:p.Gln37=
XR_001747142.1:n.1645C=
XR_001747144.1:n.1583C=
XR_002956991.1:n.1583C=
XR_945788.2:n.1583C=
NM_021830.5:c.1471C= MANE Select	NP_068602.2:p.Gln491=
NM_001163812.2:c.1471C=	NP_001157284.1:p.Gln491=
NM_001163813.2:c.109C=	NP_001157285.1:p.Gln37=
NM_001163814.2:c.109C=	NP_001157286.1:p.Gln37=
NM_001368275.1:c.109C=	NP_001355204.1:p.Gln37=
NR_160738.1:n.2139C=
NR_160739.1:n.299C=
NR_160740.1:n.2077C=
NR_160741.1:n.2077C=
NR_160742.1:n.2077C=