Canonical Allele Identifier: CA378210261

Gene: TWNK

Linked Data

• MyVariant Identifiers: chr10:g.102749407C>T (hg19) ; chr10:g.100989650C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989650C>T , CM000672.2:g.100989650C>T	GRCh38
NC_000010.10:g.102749407C>T , CM000672.1:g.102749407C>T	GRCh37
NC_000010.9:g.102739397C>T	NCBI36
NG_011646.1:g.2866G>A
NG_012624.1:g.7115C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1250C>T MANE Select	ENSP00000309595.2:p.Thr417Ile
ENST00000370228.2:c.1250C>T	ENSP00000359248.1:p.Thr417Ile
ENST00000643860.1:c.1250C>T	ENSP00000494389.1:p.Thr417Ile
ENST00000646226.1:n.65C>T
ENST00000647109.1:c.7C>T
ENST00000650396.1:c.267-56C>T
ENST00000311916.6:c.1250C>T	ENSP00000309595.2:p.Thr417Ile
ENST00000370228.1:c.1250C>T	ENSP00000359248.1:p.Thr417Ile
ENST00000459764.1:n.93C>T
ENST00000473656.5:n.71C>T
ENST00000476766.5:n.192-56C>T
NM_001163812.1:c.1250C>T	NP_001157284.1:p.Thr417Ile
NM_001163813.1:c.-113C>T	NP_001157285.1:n.-113C>T
NM_001163814.1:c.-113C>T	NP_001157286.1:n.-113C>T
NM_021830.4:c.1250C>T	NP_068602.2:p.Thr417Ile
XM_011539974.1:c.-57-56C>T	XP_011538276.1:n.-57-56C>T
XM_011539975.1:c.-57-56C>T	XP_011538277.1:n.-57-56C>T
XR_945788.1:n.2077-56C>T
XM_011539975.2:c.-57-56C>T	XP_011538277.1:n.-57-56C>T
XM_017016437.1:c.-57-56C>T	XP_016871926.1:n.-57-56C>T
XR_001747142.1:n.1424C>T
XR_001747144.1:n.1418-56C>T
XR_002956991.1:n.1418-56C>T
XR_945788.2:n.1418-56C>T
NM_021830.5:c.1250C>T MANE Select	NP_068602.2:p.Thr417Ile
NM_001163812.2:c.1250C>T	NP_001157284.1:p.Thr417Ile
NM_001163813.2:c.-113C>T	NP_001157285.1:n.-113C>T
NM_001163814.2:c.-113C>T	NP_001157286.1:n.-113C>T
NM_001368275.1:c.-57-56C>T	NP_001355204.1:n.-57-56C>T
NR_160738.1:n.1918C>T
NR_160739.1:n.78C>T
NR_160740.1:n.1912-56C>T
NR_160741.1:n.1912-56C>T
NR_160742.1:n.1912-56C>T