Canonical Allele Identifier: CA5653083

Gene: TWNK

Linked Data

• ClinVar Variation Id: 1486723
• ClinVar RCV Id: RCV002003813
• dbSNP Id: rs748648084
• ExAC: 10:102748518 A / G
• gnomAD v2: 10-102748518-A-G
• gnomAD v3: 10-100988761-A-G
• gnomAD v4: 10-100988761-A-G
• MyVariant Identifiers: chr10:g.102748518A>G (hg19) ; chr10:g.100988761A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100988761A>G , CM000672.2:g.100988761A>G	GRCh38
NC_000010.10:g.102748518A>G , CM000672.1:g.102748518A>G	GRCh37
NC_000010.9:g.102738508A>G	NCBI36
NG_011646.1:g.3755T>C
NG_012624.1:g.6226A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.551A>G MANE Select	ENSP00000309595.2:p.Lys184Arg
ENST00000370228.2:c.551A>G	ENSP00000359248.1:p.Lys184Arg
ENST00000643860.1:c.551A>G	ENSP00000494389.1:p.Lys184Arg
ENST00000646226.1:n.59-883A>G
ENST00000311916.6:c.551A>G	ENSP00000309595.2:p.Lys184Arg
ENST00000370228.1:c.551A>G	ENSP00000359248.1:p.Lys184Arg
ENST00000459764.1:n.86+881A>G
ENST00000473656.5:n.65-883A>G
ENST00000476766.5:n.192-945A>G
NM_001163812.1:c.551A>G	NP_001157284.1:p.Lys184Arg
NM_001163813.1:c.-119-883A>G	NP_001157285.1:n.-119-883A>G
NM_001163814.1:c.-119-883A>G	NP_001157286.1:n.-119-883A>G
NM_021830.4:c.551A>G	NP_068602.2:p.Lys184Arg
XM_011539975.1:c.-57-945A>G	XP_011538277.1:n.-57-945A>G
XR_945788.1:n.1384A>G
XM_011539975.2:c.-57-945A>G	XP_011538277.1:n.-57-945A>G
XM_017016437.1:c.-750A>G	XP_016871926.1:n.-750A>G
XR_001747142.1:n.725A>G
XR_001747144.1:n.725A>G
XR_002956991.1:n.725A>G
XR_945788.2:n.725A>G
NM_021830.5:c.551A>G MANE Select	NP_068602.2:p.Lys184Arg
NM_001163812.2:c.551A>G	NP_001157284.1:p.Lys184Arg
NM_001163813.2:c.-119-883A>G	NP_001157285.1:n.-119-883A>G
NM_001163814.2:c.-119-883A>G	NP_001157286.1:n.-119-883A>G
NM_001368275.1:c.-57-945A>G	NP_001355204.1:n.-57-945A>G
NR_160738.1:n.1219A>G
NR_160739.1:n.72-883A>G
NR_160740.1:n.1219A>G
NR_160741.1:n.1219A>G
NR_160742.1:n.1219A>G