Canonical Allele Identifier: CA5653262

Gene: TWNK

Linked Data

• ClinVar Variation Id: 298503
• ClinVar RCV Id: RCV002059512
• dbSNP Id: rs62626272
• ExAC: 10:102750235 C / T
• gnomAD v2: 10-102750235-C-T
• gnomAD v3: 10-100990478-C-T
• gnomAD v4: 10-100990478-C-T
• MyVariant Identifiers: chr10:g.102750235C>T (hg19) ; chr10:g.100990478C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100990478C>T , CM000672.2:g.100990478C>T	GRCh38
NC_000010.10:g.102750235C>T , CM000672.1:g.102750235C>T	GRCh37
NC_000010.9:g.102740225C>T	NCBI36
NG_011646.1:g.2038G>A
NG_012624.1:g.7943C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000311916.8:c.1527C>T MANE Select	ENSP00000309595.2:p.Asp509=
ENST00000370228.2:c.1527C>T	ENSP00000359248.1:p.Asp509=
ENST00000643860.1:c.1527C>T	ENSP00000494389.1:p.Asp509=
ENST00000646226.1:n.342C>T
ENST00000647109.1:c.186C>T
ENST00000650396.1:c.488C>T
ENST00000311916.6:c.1527C>T	ENSP00000309595.2:p.Asp509=
ENST00000370228.1:c.1527C>T	ENSP00000359248.1:p.Asp509=
ENST00000473656.5:n.348C>T
ENST00000476766.5:n.413C>T
NM_001163812.1:c.1527C>T	NP_001157284.1:p.Asp509=
NM_001163813.1:c.165C>T	NP_001157285.1:p.Asp55=
NM_001163814.1:c.165C>T	NP_001157286.1:p.Asp55=
NM_021830.4:c.1527C>T	NP_068602.2:p.Asp509=
XM_011539974.1:c.165C>T	XP_011538276.1:p.Asp55=
XM_011539975.1:c.165C>T	XP_011538277.1:p.Asp55=
XR_945788.1:n.2298C>T
XM_011539975.2:c.165C>T	XP_011538277.1:p.Asp55=
XM_017016437.1:c.165C>T	XP_016871926.1:p.Asp55=
XR_001747142.1:n.1701C>T
XR_001747144.1:n.1639C>T
XR_002956991.1:n.1639C>T
XR_945788.2:n.1639C>T
NM_021830.5:c.1527C>T MANE Select	NP_068602.2:p.Asp509=
NM_001163812.2:c.1527C>T	NP_001157284.1:p.Asp509=
NM_001163813.2:c.165C>T	NP_001157285.1:p.Asp55=
NM_001163814.2:c.165C>T	NP_001157286.1:p.Asp55=
NM_001368275.1:c.165C>T	NP_001355204.1:p.Asp55=
NR_160738.1:n.2195C>T
NR_160739.1:n.355C>T
NR_160740.1:n.2133C>T
NR_160741.1:n.2133C>T
NR_160742.1:n.2133C>T