Canonical Allele Identifier: CA471184959

Gene: TWNK

Linked Data

• MyVariant Identifiers: chr10:g.102749528A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989771A>T , CM000672.2:g.100989771A>T	GRCh38
NC_000010.10:g.102749528A>T , CM000672.1:g.102749528A>T	GRCh37
NC_000010.9:g.102739518A>T	NCBI36
NG_011646.1:g.2745T>A
NG_012624.1:g.7236A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1371A>T MANE Select	ENSP00000309595.2:p.Thr457=
ENST00000370228.2:c.1371A>T	ENSP00000359248.1:p.Thr457=
ENST00000643860.1:c.1371A>T	ENSP00000494389.1:p.Thr457=
ENST00000646226.1:n.186A>T
ENST00000647109.1:c.34-4A>T
ENST00000650396.1:c.332A>T
ENST00000311916.6:c.1371A>T	ENSP00000309595.2:p.Thr457=
ENST00000370228.1:c.1371A>T	ENSP00000359248.1:p.Thr457=
ENST00000459764.1:n.214A>T
ENST00000473656.5:n.192A>T
ENST00000476766.5:n.257A>T
NM_001163812.1:c.1371A>T	NP_001157284.1:p.Thr457=
NM_001163813.1:c.9A>T	NP_001157285.1:p.Thr3=
NM_001163814.1:c.9A>T	NP_001157286.1:p.Thr3=
NM_021830.4:c.1371A>T	NP_068602.2:p.Thr457=
XM_011539974.1:c.9A>T	XP_011538276.1:p.Thr3=
XM_011539975.1:c.9A>T	XP_011538277.1:p.Thr3=
XR_945788.1:n.2142A>T
XM_011539975.2:c.9A>T	XP_011538277.1:p.Thr3=
XM_017016437.1:c.9A>T	XP_016871926.1:p.Thr3=
XR_001747142.1:n.1545A>T
XR_001747144.1:n.1483A>T
XR_002956991.1:n.1483A>T
XR_945788.2:n.1483A>T
NM_021830.5:c.1371A>T MANE Select	NP_068602.2:p.Thr457=
NM_001163812.2:c.1371A>T	NP_001157284.1:p.Thr457=
NM_001163813.2:c.9A>T	NP_001157285.1:p.Thr3=
NM_001163814.2:c.9A>T	NP_001157286.1:p.Thr3=
NM_001368275.1:c.9A>T	NP_001355204.1:p.Thr3=
NR_160738.1:n.2039A>T
NR_160739.1:n.199A>T
NR_160740.1:n.1977A>T
NR_160741.1:n.1977A>T
NR_160742.1:n.1977A>T