Canonical Allele Identifier: CA378210898

Gene: TWNK

Linked Data

• ClinVar Variation Id: 427065
• ClinVar RCV Id: RCV000489376
• dbSNP Id: rs1085307937
• MyVariant Identifiers: chr10:g.102749592G>A (hg19) ; chr10:g.100989835G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989835G>A , CM000672.2:g.100989835G>A	GRCh38
NC_000010.10:g.102749592G>A , CM000672.1:g.102749592G>A	GRCh37
NC_000010.9:g.102739582G>A	NCBI36
NG_011646.1:g.2681C>T
NG_012624.1:g.7300G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000311916.8:c.1435G>A MANE Select	ENSP00000309595.2:p.Glu479Lys
ENST00000370228.2:c.1435G>A	ENSP00000359248.1:p.Glu479Lys
ENST00000643860.1:c.1435G>A	ENSP00000494389.1:p.Glu479Lys
ENST00000646226.1:n.250G>A
ENST00000647109.1:c.94G>A
ENST00000650396.1:c.396G>A
ENST00000311916.6:c.1435G>A	ENSP00000309595.2:p.Glu479Lys
ENST00000370228.1:c.1435G>A	ENSP00000359248.1:p.Glu479Lys
ENST00000459764.1:n.278G>A
ENST00000473656.5:n.256G>A
ENST00000476766.5:n.321G>A
NM_001163812.1:c.1435G>A	NP_001157284.1:p.Glu479Lys
NM_001163813.1:c.73G>A	NP_001157285.1:p.Glu25Lys
NM_001163814.1:c.73G>A	NP_001157286.1:p.Glu25Lys
NM_021830.4:c.1435G>A	NP_068602.2:p.Glu479Lys
XM_011539974.1:c.73G>A	XP_011538276.1:p.Glu25Lys
XM_011539975.1:c.73G>A	XP_011538277.1:p.Glu25Lys
XR_945788.1:n.2206G>A
XM_011539975.2:c.73G>A	XP_011538277.1:p.Glu25Lys
XM_017016437.1:c.73G>A	XP_016871926.1:p.Glu25Lys
XR_001747142.1:n.1609G>A
XR_001747144.1:n.1547G>A
XR_002956991.1:n.1547G>A
XR_945788.2:n.1547G>A
NM_021830.5:c.1435G>A MANE Select	NP_068602.2:p.Glu479Lys
NM_001163812.2:c.1435G>A	NP_001157284.1:p.Glu479Lys
NM_001163813.2:c.73G>A	NP_001157285.1:p.Glu25Lys
NM_001163814.2:c.73G>A	NP_001157286.1:p.Glu25Lys
NM_001368275.1:c.73G>A	NP_001355204.1:p.Glu25Lys
NR_160738.1:n.2103G>A
NR_160739.1:n.263G>A
NR_160740.1:n.2041G>A
NR_160741.1:n.2041G>A
NR_160742.1:n.2041G>A