Canonical Allele Identifier: CA5653396

Gene: TWNK

Linked Data

• ClinVar Variation Id: 279716
• ClinVar RCV Id: RCV000278667 ; RCV000312773 ; RCV000352301 ; RCV000406261 ; RCV001722382 ; RCV001848044 ; RCV004021053 ; RCV001336025
• dbSNP Id: rs369223258
• ExAC: 10:102753262 A / C
• gnomAD v2: 10-102753262-A-C
• gnomAD v3: 10-100993505-A-C
• gnomAD v4: 10-100993505-A-C
• MyVariant Identifiers: chr10:g.102753262A>C (hg19) ; chr10:g.100993505A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100993505A>C , CM000672.2:g.100993505A>C	GRCh38
NC_000010.10:g.102753262A>C , CM000672.1:g.102753262A>C	GRCh37
NC_000010.9:g.102743252A>C	NCBI36
NG_012624.1:g.10970A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.2050A>C MANE Select	ENSP00000309595.2:p.Lys684Gln
ENST00000370228.2:c.*345A>C	ENSP00000359248.1:n.*345A>C
ENST00000643860.1:c.*574A>C	ENSP00000494389.1:n.*574A>C
ENST00000647109.1:c.753A>C
ENST00000650396.1:c.1175A>C
ENST00000311916.6:c.2050A>C	ENSP00000309595.2:p.Lys684Gln
ENST00000370228.1:c.*345A>C	ENSP00000359248.1:n.*345A>C
ENST00000473656.5:n.871A>C
NM_001163812.1:c.*345A>C	NP_001157284.1:n.*345A>C
NM_001163813.1:c.688A>C	NP_001157285.1:p.Lys230Gln
NM_001163814.1:c.*345A>C	NP_001157286.1:n.*345A>C
NM_021830.4:c.2050A>C	NP_068602.2:p.Lys684Gln
XM_011539974.1:c.688A>C	XP_011538276.1:p.Lys230Gln
XM_011539975.1:c.688A>C	XP_011538277.1:p.Lys230Gln
XM_011539975.2:c.688A>C	XP_011538277.1:p.Lys230Gln
XM_017016437.1:c.688A>C	XP_016871926.1:p.Lys230Gln
XR_001747142.1:n.2344A>C
XR_001747144.1:n.2326A>C
XR_002956991.1:n.2162A>C
XR_945788.2:n.2206A>C
NM_021830.5:c.2050A>C MANE Select	NP_068602.2:p.Lys684Gln
NM_001163812.2:c.*345A>C	NP_001157284.1:n.*345A>C
NM_001163813.2:c.688A>C	NP_001157285.1:p.Lys230Gln
NM_001163814.2:c.*345A>C	NP_001157286.1:n.*345A>C
NM_001368275.1:c.688A>C	NP_001355204.1:p.Lys230Gln
NR_160738.1:n.2838A>C
NR_160739.1:n.1042A>C
NR_160740.1:n.2700A>C
NR_160741.1:n.2656A>C
NR_160742.1:n.2820A>C