Canonical Allele Identifier: CA5653070

Gene: TWNK

Linked Data

• ClinVar Variation Id: 298498
• ClinVar RCV Id: RCV000279300 ; RCV000336716 ; RCV000395922 ; RCV000405350 ; RCV002262948
• dbSNP Id: rs775463083
• ExAC: 10:102748459 C / T
• gnomAD v2: 10-102748459-C-T
• gnomAD v3: 10-100988702-C-T
• gnomAD v4: 10-100988702-C-T
• COSMIC: COSM426945
• MyVariant Identifiers: chr10:g.102748459C>T (hg19) ; chr10:g.100988702C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100988702C>T , CM000672.2:g.100988702C>T	GRCh38
NC_000010.10:g.102748459C>T , CM000672.1:g.102748459C>T	GRCh37
NC_000010.9:g.102738449C>T	NCBI36
NG_011646.1:g.3814G>A
NG_012624.1:g.6167C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.492C>T MANE Select	ENSP00000309595.2:p.Leu164=
ENST00000370228.2:c.492C>T	ENSP00000359248.1:p.Leu164=
ENST00000643860.1:c.492C>T	ENSP00000494389.1:p.Leu164=
ENST00000646226.1:n.59-942C>T
ENST00000311916.6:c.492C>T	ENSP00000309595.2:p.Leu164=
ENST00000370228.1:c.492C>T	ENSP00000359248.1:p.Leu164=
ENST00000459764.1:n.86+822C>T
ENST00000473656.5:n.65-942C>T
ENST00000476766.5:n.192-1004C>T
NM_001163812.1:c.492C>T	NP_001157284.1:p.Leu164=
NM_001163813.1:c.-119-942C>T	NP_001157285.1:n.-119-942C>T
NM_001163814.1:c.-119-942C>T	NP_001157286.1:n.-119-942C>T
NM_021830.4:c.492C>T	NP_068602.2:p.Leu164=
XM_011539975.1:c.-57-1004C>T	XP_011538277.1:n.-57-1004C>T
XR_945788.1:n.1325C>T
XM_011539975.2:c.-57-1004C>T	XP_011538277.1:n.-57-1004C>T
XM_017016437.1:c.-809C>T	XP_016871926.1:n.-809C>T
XR_001747142.1:n.666C>T
XR_001747144.1:n.666C>T
XR_002956991.1:n.666C>T
XR_945788.2:n.666C>T
NM_021830.5:c.492C>T MANE Select	NP_068602.2:p.Leu164=
NM_001163812.2:c.492C>T	NP_001157284.1:p.Leu164=
NM_001163813.2:c.-119-942C>T	NP_001157285.1:n.-119-942C>T
NM_001163814.2:c.-119-942C>T	NP_001157286.1:n.-119-942C>T
NM_001368275.1:c.-57-1004C>T	NP_001355204.1:n.-57-1004C>T
NR_160738.1:n.1160C>T
NR_160739.1:n.72-942C>T
NR_160740.1:n.1160C>T
NR_160741.1:n.1160C>T
NR_160742.1:n.1160C>T