Canonical Allele Identifier: CA378210505

Gene: TWNK

Linked Data

• ClinVar Variation Id: 694434
• ClinVar RCV Id: RCV000855765
• dbSNP Id: rs1366090807
• MyVariant Identifiers: chr10:g.102749471C>G (hg19) ; chr10:g.100989714C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989714C>G , CM000672.2:g.100989714C>G	GRCh38
NC_000010.10:g.102749471C>G , CM000672.1:g.102749471C>G	GRCh37
NC_000010.9:g.102739461C>G	NCBI36
NG_011646.1:g.2802G>C
NG_012624.1:g.7179C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1314C>G MANE Select	ENSP00000309595.2:p.Asn438Lys
ENST00000370228.2:c.1314C>G	ENSP00000359248.1:p.Asn438Lys
ENST00000643860.1:c.1314C>G	ENSP00000494389.1:p.Asn438Lys
ENST00000646226.1:n.129C>G
ENST00000647109.1:c.33+38C>G
ENST00000650396.1:c.275C>G
ENST00000311916.6:c.1314C>G	ENSP00000309595.2:p.Asn438Lys
ENST00000370228.1:c.1314C>G	ENSP00000359248.1:p.Asn438Lys
ENST00000459764.1:n.157C>G
ENST00000473656.5:n.135C>G
ENST00000476766.5:n.200C>G
NM_001163812.1:c.1314C>G	NP_001157284.1:p.Asn438Lys
NM_001163813.1:c.-49C>G	NP_001157285.1:n.-49C>G
NM_001163814.1:c.-49C>G	NP_001157286.1:n.-49C>G
NM_021830.4:c.1314C>G	NP_068602.2:p.Asn438Lys
XM_011539974.1:c.-49C>G	XP_011538276.1:n.-49C>G
XM_011539975.1:c.-49C>G	XP_011538277.1:n.-49C>G
XR_945788.1:n.2085C>G
XM_011539975.2:c.-49C>G	XP_011538277.1:n.-49C>G
XM_017016437.1:c.-49C>G	XP_016871926.1:n.-49C>G
XR_001747142.1:n.1488C>G
XR_001747144.1:n.1426C>G
XR_002956991.1:n.1426C>G
XR_945788.2:n.1426C>G
NM_021830.5:c.1314C>G MANE Select	NP_068602.2:p.Asn438Lys
NM_001163812.2:c.1314C>G	NP_001157284.1:p.Asn438Lys
NM_001163813.2:c.-49C>G	NP_001157285.1:n.-49C>G
NM_001163814.2:c.-49C>G	NP_001157286.1:n.-49C>G
NM_001368275.1:c.-49C>G	NP_001355204.1:n.-49C>G
NR_160738.1:n.1982C>G
NR_160739.1:n.142C>G
NR_160740.1:n.1920C>G
NR_160741.1:n.1920C>G
NR_160742.1:n.1920C>G