Canonical Allele Identifier: CA471185150

Gene: TWNK

Linked Data

• ClinVar Variation Id: 1303933
• ClinVar RCV Id: RCV001758226
• dbSNP Id: rs2133941470
• gnomAD v4: 10-100990541-C-T
• MyVariant Identifiers: chr10:g.102750298C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100990541C>T , CM000672.2:g.100990541C>T	GRCh38
NC_000010.10:g.102750298C>T , CM000672.1:g.102750298C>T	GRCh37
NC_000010.9:g.102740288C>T	NCBI36
NG_011646.1:g.1975G>A
NG_012624.1:g.8006C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1590C>T MANE Select	ENSP00000309595.2:p.Asp530=
ENST00000370228.2:c.1590C>T	ENSP00000359248.1:p.Asp530=
ENST00000643860.1:c.1590C>T	ENSP00000494389.1:p.Asp530=
ENST00000646226.1:n.405C>T
ENST00000647109.1:c.249C>T
ENST00000650396.1:c.551C>T
ENST00000311916.6:c.1590C>T	ENSP00000309595.2:p.Asp530=
ENST00000370228.1:c.1590C>T	ENSP00000359248.1:p.Asp530=
ENST00000473656.5:n.411C>T
ENST00000476766.5:n.476C>T
NM_001163812.1:c.1590C>T	NP_001157284.1:p.Asp530=
NM_001163813.1:c.228C>T	NP_001157285.1:p.Asp76=
NM_001163814.1:c.228C>T	NP_001157286.1:p.Asp76=
NM_021830.4:c.1590C>T	NP_068602.2:p.Asp530=
XM_011539974.1:c.228C>T	XP_011538276.1:p.Asp76=
XM_011539975.1:c.228C>T	XP_011538277.1:p.Asp76=
XR_945788.1:n.2361C>T
XM_011539975.2:c.228C>T	XP_011538277.1:p.Asp76=
XM_017016437.1:c.228C>T	XP_016871926.1:p.Asp76=
XR_001747142.1:n.1764C>T
XR_001747144.1:n.1702C>T
XR_002956991.1:n.1702C>T
XR_945788.2:n.1702C>T
NM_021830.5:c.1590C>T MANE Select	NP_068602.2:p.Asp530=
NM_001163812.2:c.1590C>T	NP_001157284.1:p.Asp530=
NM_001163813.2:c.228C>T	NP_001157285.1:p.Asp76=
NM_001163814.2:c.228C>T	NP_001157286.1:p.Asp76=
NM_001368275.1:c.228C>T	NP_001355204.1:p.Asp76=
NR_160738.1:n.2258C>T
NR_160739.1:n.418C>T
NR_160740.1:n.2196C>T
NR_160741.1:n.2196C>T
NR_160742.1:n.2196C>T