Canonical Allele Identifier: CA5653219

Gene: TWNK

Linked Data

• ClinVar Variation Id: 444235
• ClinVar RCV Id: RCV000513096
• dbSNP Id: rs776518524
• ExAC: 10:102749538 G / A
• gnomAD v2: 10-102749538-G-A
• gnomAD v3: 10-100989781-G-A
• gnomAD v4: 10-100989781-G-A
• MyVariant Identifiers: chr10:g.102749538G>A (hg19) ; chr10:g.100989781G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989781G>A , CM000672.2:g.100989781G>A	GRCh38
NC_000010.10:g.102749538G>A , CM000672.1:g.102749538G>A	GRCh37
NC_000010.9:g.102739528G>A	NCBI36
NG_011646.1:g.2735C>T
NG_012624.1:g.7246G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1381G>A MANE Select	ENSP00000309595.2:p.Glu461Lys
ENST00000370228.2:c.1381G>A	ENSP00000359248.1:p.Glu461Lys
ENST00000643860.1:c.1381G>A	ENSP00000494389.1:p.Glu461Lys
ENST00000646226.1:n.196G>A
ENST00000647109.1:c.40G>A
ENST00000650396.1:c.342G>A
ENST00000311916.6:c.1381G>A	ENSP00000309595.2:p.Glu461Lys
ENST00000370228.1:c.1381G>A	ENSP00000359248.1:p.Glu461Lys
ENST00000459764.1:n.224G>A
ENST00000473656.5:n.202G>A
ENST00000476766.5:n.267G>A
NM_001163812.1:c.1381G>A	NP_001157284.1:p.Glu461Lys
NM_001163813.1:c.19G>A	NP_001157285.1:p.Glu7Lys
NM_001163814.1:c.19G>A	NP_001157286.1:p.Glu7Lys
NM_021830.4:c.1381G>A	NP_068602.2:p.Glu461Lys
XM_011539974.1:c.19G>A	XP_011538276.1:p.Glu7Lys
XM_011539975.1:c.19G>A	XP_011538277.1:p.Glu7Lys
XR_945788.1:n.2152G>A
XM_011539975.2:c.19G>A	XP_011538277.1:p.Glu7Lys
XM_017016437.1:c.19G>A	XP_016871926.1:p.Glu7Lys
XR_001747142.1:n.1555G>A
XR_001747144.1:n.1493G>A
XR_002956991.1:n.1493G>A
XR_945788.2:n.1493G>A
NM_021830.5:c.1381G>A MANE Select	NP_068602.2:p.Glu461Lys
NM_001163812.2:c.1381G>A	NP_001157284.1:p.Glu461Lys
NM_001163813.2:c.19G>A	NP_001157285.1:p.Glu7Lys
NM_001163814.2:c.19G>A	NP_001157286.1:p.Glu7Lys
NM_001368275.1:c.19G>A	NP_001355204.1:p.Glu7Lys
NR_160738.1:n.2049G>A
NR_160739.1:n.209G>A
NR_160740.1:n.1987G>A
NR_160741.1:n.1987G>A
NR_160742.1:n.1987G>A