Canonical Allele Identifier: CA378211125

Gene: TWNK

Linked Data

• MyVariant Identifiers: chr10:g.102750238T>G (hg19) ; chr10:g.100990481T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100990481T>G , CM000672.2:g.100990481T>G	GRCh38
NC_000010.10:g.102750238T>G , CM000672.1:g.102750238T>G	GRCh37
NC_000010.9:g.102740228T>G	NCBI36
NG_011646.1:g.2035A>C
NG_012624.1:g.7946T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000311916.8:c.1530T>G MANE Select	ENSP00000309595.2:p.Ile510Met
ENST00000370228.2:c.1530T>G	ENSP00000359248.1:p.Ile510Met
ENST00000643860.1:c.1530T>G	ENSP00000494389.1:p.Ile510Met
ENST00000646226.1:n.345T>G
ENST00000647109.1:c.189T>G
ENST00000650396.1:c.491T>G
ENST00000311916.6:c.1530T>G	ENSP00000309595.2:p.Ile510Met
ENST00000370228.1:c.1530T>G	ENSP00000359248.1:p.Ile510Met
ENST00000473656.5:n.351T>G
ENST00000476766.5:n.416T>G
NM_001163812.1:c.1530T>G	NP_001157284.1:p.Ile510Met
NM_001163813.1:c.168T>G	NP_001157285.1:p.Ile56Met
NM_001163814.1:c.168T>G	NP_001157286.1:p.Ile56Met
NM_021830.4:c.1530T>G	NP_068602.2:p.Ile510Met
XM_011539974.1:c.168T>G	XP_011538276.1:p.Ile56Met
XM_011539975.1:c.168T>G	XP_011538277.1:p.Ile56Met
XR_945788.1:n.2301T>G
XM_011539975.2:c.168T>G	XP_011538277.1:p.Ile56Met
XM_017016437.1:c.168T>G	XP_016871926.1:p.Ile56Met
XR_001747142.1:n.1704T>G
XR_001747144.1:n.1642T>G
XR_002956991.1:n.1642T>G
XR_945788.2:n.1642T>G
NM_021830.5:c.1530T>G MANE Select	NP_068602.2:p.Ile510Met
NM_001163812.2:c.1530T>G	NP_001157284.1:p.Ile510Met
NM_001163813.2:c.168T>G	NP_001157285.1:p.Ile56Met
NM_001163814.2:c.168T>G	NP_001157286.1:p.Ile56Met
NM_001368275.1:c.168T>G	NP_001355204.1:p.Ile56Met
NR_160738.1:n.2198T>G
NR_160739.1:n.358T>G
NR_160740.1:n.2136T>G
NR_160741.1:n.2136T>G
NR_160742.1:n.2136T>G