Canonical Allele Identifier: CA378210970

Gene: TWNK

Linked Data

• ClinVar Variation Id: 2012569
• ClinVar RCV Id: RCV002843214
• MyVariant Identifiers: chr10:g.102749622C>T (hg19) ; chr10:g.100989865C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989865C>T , CM000672.2:g.100989865C>T	GRCh38
NC_000010.10:g.102749622C>T , CM000672.1:g.102749622C>T	GRCh37
NC_000010.9:g.102739612C>T	NCBI36
NG_011646.1:g.2651G>A
NG_012624.1:g.7330C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1465C>T MANE Select	ENSP00000309595.2:p.His489Tyr
ENST00000370228.2:c.1465C>T	ENSP00000359248.1:p.His489Tyr
ENST00000643860.1:c.1465C>T	ENSP00000494389.1:p.His489Tyr
ENST00000646226.1:n.280C>T
ENST00000647109.1:c.124C>T
ENST00000650396.1:c.426C>T
ENST00000311916.6:c.1465C>T	ENSP00000309595.2:p.His489Tyr
ENST00000370228.1:c.1465C>T	ENSP00000359248.1:p.His489Tyr
ENST00000459764.1:n.308C>T
ENST00000473656.5:n.286C>T
ENST00000476766.5:n.351C>T
NM_001163812.1:c.1465C>T	NP_001157284.1:p.His489Tyr
NM_001163813.1:c.103C>T	NP_001157285.1:p.His35Tyr
NM_001163814.1:c.103C>T	NP_001157286.1:p.His35Tyr
NM_021830.4:c.1465C>T	NP_068602.2:p.His489Tyr
XM_011539974.1:c.103C>T	XP_011538276.1:p.His35Tyr
XM_011539975.1:c.103C>T	XP_011538277.1:p.His35Tyr
XR_945788.1:n.2236C>T
XM_011539975.2:c.103C>T	XP_011538277.1:p.His35Tyr
XM_017016437.1:c.103C>T	XP_016871926.1:p.His35Tyr
XR_001747142.1:n.1639C>T
XR_001747144.1:n.1577C>T
XR_002956991.1:n.1577C>T
XR_945788.2:n.1577C>T
NM_021830.5:c.1465C>T MANE Select	NP_068602.2:p.His489Tyr
NM_001163812.2:c.1465C>T	NP_001157284.1:p.His489Tyr
NM_001163813.2:c.103C>T	NP_001157285.1:p.His35Tyr
NM_001163814.2:c.103C>T	NP_001157286.1:p.His35Tyr
NM_001368275.1:c.103C>T	NP_001355204.1:p.His35Tyr
NR_160738.1:n.2133C>T
NR_160739.1:n.293C>T
NR_160740.1:n.2071C>T
NR_160741.1:n.2071C>T
NR_160742.1:n.2071C>T