Canonical Allele Identifier: CA1932019242

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100988856T= , CM000672.2:g.100988856T=	GRCh38
NC_000010.10:g.102748613T= , CM000672.1:g.102748613T=	GRCh37
NC_000010.9:g.102738603T=	NCBI36
NG_011646.1:g.3660A=
NG_012624.1:g.6321T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000311916.8:c.646T= MANE Select	ENSP00000309595.2:p.Leu216=
ENST00000370228.2:c.646T=	ENSP00000359248.1:p.Leu216=
ENST00000643860.1:c.646T=	ENSP00000494389.1:p.Leu216=
ENST00000646226.1:n.59-788T=
ENST00000311916.6:c.646T=	ENSP00000309595.2:p.Leu216=
ENST00000370228.1:c.646T=	ENSP00000359248.1:p.Leu216=
ENST00000459764.1:n.87-788T=
ENST00000473656.5:n.65-788T=
ENST00000476766.5:n.192-850T=
NM_001163812.1:c.646T=	NP_001157284.1:p.Leu216=
NM_001163813.1:c.-119-788T=	NP_001157285.1:n.-119-788T=
NM_001163814.1:c.-119-788T=	NP_001157286.1:n.-119-788T=
NM_021830.4:c.646T=	NP_068602.2:p.Leu216=
XM_011539975.1:c.-57-850T=	XP_011538277.1:n.-57-850T=
XR_945788.1:n.1479T=
XM_011539975.2:c.-57-850T=	XP_011538277.1:n.-57-850T=
XM_017016437.1:c.-655T=	XP_016871926.1:n.-655T=
XR_001747142.1:n.820T=
XR_001747144.1:n.820T=
XR_002956991.1:n.820T=
XR_945788.2:n.820T=
NM_021830.5:c.646T= MANE Select	NP_068602.2:p.Leu216=
NM_001163812.2:c.646T=	NP_001157284.1:p.Leu216=
NM_001163813.2:c.-119-788T=	NP_001157285.1:n.-119-788T=
NM_001163814.2:c.-119-788T=	NP_001157286.1:n.-119-788T=
NM_001368275.1:c.-57-850T=	NP_001355204.1:n.-57-850T=
NR_160738.1:n.1314T=
NR_160739.1:n.72-788T=
NR_160740.1:n.1314T=
NR_160741.1:n.1314T=
NR_160742.1:n.1314T=