Canonical Allele Identifier: CA1932021828

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989804G= , CM000672.2:g.100989804G=	GRCh38
NC_000010.10:g.102749561G= , CM000672.1:g.102749561G=	GRCh37
NC_000010.9:g.102739551G=	NCBI36
NG_011646.1:g.2712C=
NG_012624.1:g.7269G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1404G= MANE Select	ENSP00000309595.2:p.Leu468=
ENST00000370228.2:c.1404G=	ENSP00000359248.1:p.Leu468=
ENST00000643860.1:c.1404G=	ENSP00000494389.1:p.Leu468=
ENST00000646226.1:n.219G=
ENST00000647109.1:c.63G=
ENST00000650396.1:c.365G=
ENST00000311916.6:c.1404G=	ENSP00000309595.2:p.Leu468=
ENST00000370228.1:c.1404G=	ENSP00000359248.1:p.Leu468=
ENST00000459764.1:n.247G=
ENST00000473656.5:n.225G=
ENST00000476766.5:n.290G=
NM_001163812.1:c.1404G=	NP_001157284.1:p.Leu468=
NM_001163813.1:c.42G=	NP_001157285.1:p.Leu14=
NM_001163814.1:c.42G=	NP_001157286.1:p.Leu14=
NM_021830.4:c.1404G=	NP_068602.2:p.Leu468=
XM_011539974.1:c.42G=	XP_011538276.1:p.Leu14=
XM_011539975.1:c.42G=	XP_011538277.1:p.Leu14=
XR_945788.1:n.2175G=
XM_011539975.2:c.42G=	XP_011538277.1:p.Leu14=
XM_017016437.1:c.42G=	XP_016871926.1:p.Leu14=
XR_001747142.1:n.1578G=
XR_001747144.1:n.1516G=
XR_002956991.1:n.1516G=
XR_945788.2:n.1516G=
NM_021830.5:c.1404G= MANE Select	NP_068602.2:p.Leu468=
NM_001163812.2:c.1404G=	NP_001157284.1:p.Leu468=
NM_001163813.2:c.42G=	NP_001157285.1:p.Leu14=
NM_001163814.2:c.42G=	NP_001157286.1:p.Leu14=
NM_001368275.1:c.42G=	NP_001355204.1:p.Leu14=
NR_160738.1:n.2072G=
NR_160739.1:n.232G=
NR_160740.1:n.2010G=
NR_160741.1:n.2010G=
NR_160742.1:n.2010G=