Canonical Allele Identifier: CA1932001355

Gene: TWNK

Linked Data

• dbSNP Id: rs1851868513

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100994321C>T , CM000672.2:g.100994321C>T	GRCh38
NC_000010.10:g.102754078C>T , CM000672.1:g.102754078C>T	GRCh37
NC_000010.9:g.102744068C>T	NCBI36
NG_012624.1:g.11786C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.*811C>T MANE Select	ENSP00000309595.2:n.*811C>T
ENST00000370228.2:c.*1161C>T	ENSP00000359248.1:n.*1161C>T
ENST00000643860.1:c.*1390C>T	ENSP00000494389.1:n.*1390C>T
ENST00000650396.1:c.1991C>T
ENST00000311916.6:c.*811C>T	ENSP00000309595.2:n.*811C>T
ENST00000370228.1:c.*1161C>T	ENSP00000359248.1:n.*1161C>T
NM_001163812.1:c.*1161C>T	NP_001157284.1:n.*1161C>T
NM_001163813.1:c.*811C>T	NP_001157285.1:n.*811C>T
NM_001163814.1:c.*1161C>T	NP_001157286.1:n.*1161C>T
NM_021830.4:c.*811C>T	NP_068602.2:n.*811C>T
XM_011539974.1:c.*811C>T	XP_011538276.1:n.*811C>T
XM_011539975.1:c.*811C>T	XP_011538277.1:n.*811C>T
XM_011539975.2:c.*811C>T	XP_011538277.1:n.*811C>T
XM_017016437.1:c.*811C>T	XP_016871926.1:n.*811C>T
XR_001747142.1:n.3160C>T
XR_001747144.1:n.3142C>T
XR_002956991.1:n.2978C>T
XR_945788.2:n.3022C>T
NM_021830.5:c.*811C>T MANE Select	NP_068602.2:n.*811C>T
NM_001163812.2:c.*1161C>T	NP_001157284.1:n.*1161C>T
NM_001163813.2:c.*811C>T	NP_001157285.1:n.*811C>T
NM_001163814.2:c.*1161C>T	NP_001157286.1:n.*1161C>T
NM_001368275.1:c.*811C>T	NP_001355204.1:n.*811C>T
NR_160738.1:n.3654C>T
NR_160739.1:n.1858C>T
NR_160740.1:n.3516C>T
NR_160741.1:n.3472C>T
NR_160742.1:n.3636C>T