Canonical Allele Identifier: CA378210927

Gene: TWNK

Linked Data

• ClinVar Variation Id: 2854231
• ClinVar RCV Id: RCV003688535
• dbSNP Id: rs1202292107
• gnomAD v2: 10-102749605-T-A
• gnomAD v4: 10-100989848-T-A
• MyVariant Identifiers: chr10:g.102749605T>A (hg19) ; chr10:g.100989848T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989848T>A , CM000672.2:g.100989848T>A	GRCh38
NC_000010.10:g.102749605T>A , CM000672.1:g.102749605T>A	GRCh37
NC_000010.9:g.102739595T>A	NCBI36
NG_011646.1:g.2668A>T
NG_012624.1:g.7313T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1448T>A MANE Select	ENSP00000309595.2:p.Leu483His
ENST00000370228.2:c.1448T>A	ENSP00000359248.1:p.Leu483His
ENST00000643860.1:c.1448T>A	ENSP00000494389.1:p.Leu483His
ENST00000646226.1:n.263T>A
ENST00000647109.1:c.107T>A
ENST00000650396.1:c.409T>A
ENST00000311916.6:c.1448T>A	ENSP00000309595.2:p.Leu483His
ENST00000370228.1:c.1448T>A	ENSP00000359248.1:p.Leu483His
ENST00000459764.1:n.291T>A
ENST00000473656.5:n.269T>A
ENST00000476766.5:n.334T>A
NM_001163812.1:c.1448T>A	NP_001157284.1:p.Leu483His
NM_001163813.1:c.86T>A	NP_001157285.1:p.Leu29His
NM_001163814.1:c.86T>A	NP_001157286.1:p.Leu29His
NM_021830.4:c.1448T>A	NP_068602.2:p.Leu483His
XM_011539974.1:c.86T>A	XP_011538276.1:p.Leu29His
XM_011539975.1:c.86T>A	XP_011538277.1:p.Leu29His
XR_945788.1:n.2219T>A
XM_011539975.2:c.86T>A	XP_011538277.1:p.Leu29His
XM_017016437.1:c.86T>A	XP_016871926.1:p.Leu29His
XR_001747142.1:n.1622T>A
XR_001747144.1:n.1560T>A
XR_002956991.1:n.1560T>A
XR_945788.2:n.1560T>A
NM_021830.5:c.1448T>A MANE Select	NP_068602.2:p.Leu483His
NM_001163812.2:c.1448T>A	NP_001157284.1:p.Leu483His
NM_001163813.2:c.86T>A	NP_001157285.1:p.Leu29His
NM_001163814.2:c.86T>A	NP_001157286.1:p.Leu29His
NM_001368275.1:c.86T>A	NP_001355204.1:p.Leu29His
NR_160738.1:n.2116T>A
NR_160739.1:n.276T>A
NR_160740.1:n.2054T>A
NR_160741.1:n.2054T>A
NR_160742.1:n.2054T>A