Canonical Allele Identifier: CA378209896

Gene: TWNK

Linked Data

• MyVariant Identifiers: chr10:g.102749095G>T (hg19) ; chr10:g.100989338G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989338G>T , CM000672.2:g.100989338G>T	GRCh38
NC_000010.10:g.102749095G>T , CM000672.1:g.102749095G>T	GRCh37
NC_000010.9:g.102739085G>T	NCBI36
NG_011646.1:g.3178C>A
NG_012624.1:g.6803G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000311916.8:c.1128G>T MANE Select	ENSP00000309595.2:p.Glu376Asp
ENST00000370228.2:c.1128G>T	ENSP00000359248.1:p.Glu376Asp
ENST00000643860.1:c.1128G>T	ENSP00000494389.1:p.Glu376Asp
ENST00000646226.1:n.59-306G>T
ENST00000650396.1:c.151G>T
ENST00000311916.6:c.1128G>T	ENSP00000309595.2:p.Glu376Asp
ENST00000370228.1:c.1128G>T	ENSP00000359248.1:p.Glu376Asp
ENST00000459764.1:n.87-306G>T
ENST00000473656.5:n.65-306G>T
ENST00000476766.5:n.192-368G>T
NM_001163812.1:c.1128G>T	NP_001157284.1:p.Glu376Asp
NM_001163813.1:c.-119-306G>T	NP_001157285.1:n.-119-306G>T
NM_001163814.1:c.-119-306G>T	NP_001157286.1:n.-119-306G>T
NM_021830.4:c.1128G>T	NP_068602.2:p.Glu376Asp
XM_011539975.1:c.-57-368G>T	XP_011538277.1:n.-57-368G>T
XR_945788.1:n.1961G>T
XM_011539975.2:c.-57-368G>T	XP_011538277.1:n.-57-368G>T
XM_017016437.1:c.-173G>T	XP_016871926.1:n.-173G>T
XR_001747142.1:n.1302G>T
XR_001747144.1:n.1302G>T
XR_002956991.1:n.1302G>T
XR_945788.2:n.1302G>T
NM_021830.5:c.1128G>T MANE Select	NP_068602.2:p.Glu376Asp
NM_001163812.2:c.1128G>T	NP_001157284.1:p.Glu376Asp
NM_001163813.2:c.-119-306G>T	NP_001157285.1:n.-119-306G>T
NM_001163814.2:c.-119-306G>T	NP_001157286.1:n.-119-306G>T
NM_001368275.1:c.-57-368G>T	NP_001355204.1:n.-57-368G>T
NR_160738.1:n.1796G>T
NR_160739.1:n.72-306G>T
NR_160740.1:n.1796G>T
NR_160741.1:n.1796G>T
NR_160742.1:n.1796G>T