Canonical Allele Identifier: CA5653134

Gene: TWNK

Linked Data

• ClinVar Variation Id: 225838
• ClinVar RCV Id: RCV000239858 ; RCV003317155 ; RCV001762457 ; RCV003989505
• dbSNP Id: rs374997012
• ExAC: 10:102748871 C / T
• gnomAD v2: 10-102748871-C-T
• gnomAD v3: 10-100989114-C-T
• gnomAD v4: 10-100989114-C-T
• COSMIC: COSM4011089
• MyVariant Identifiers: chr10:g.102748871C>T (hg19) ; chr10:g.100989114C>T (hg38)
• PubMed: PMID:27551684

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989114C>T , CM000672.2:g.100989114C>T	GRCh38
NC_000010.10:g.102748871C>T , CM000672.1:g.102748871C>T	GRCh37
NC_000010.9:g.102738861C>T	NCBI36
NG_011646.1:g.3402G>A
NG_012624.1:g.6579C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.904C>T MANE Select	ENSP00000309595.2:p.Arg302Trp
ENST00000370228.2:c.904C>T	ENSP00000359248.1:p.Arg302Trp
ENST00000643860.1:c.904C>T	ENSP00000494389.1:p.Arg302Trp
ENST00000646226.1:n.59-530C>T
ENST00000311916.6:c.904C>T	ENSP00000309595.2:p.Arg302Trp
ENST00000370228.1:c.904C>T	ENSP00000359248.1:p.Arg302Trp
ENST00000459764.1:n.87-530C>T
ENST00000473656.5:n.65-530C>T
ENST00000476766.5:n.192-592C>T
NM_001163812.1:c.904C>T	NP_001157284.1:p.Arg302Trp
NM_001163813.1:c.-119-530C>T	NP_001157285.1:n.-119-530C>T
NM_001163814.1:c.-119-530C>T	NP_001157286.1:n.-119-530C>T
NM_021830.4:c.904C>T	NP_068602.2:p.Arg302Trp
XM_011539975.1:c.-57-592C>T	XP_011538277.1:n.-57-592C>T
XR_945788.1:n.1737C>T
XM_011539975.2:c.-57-592C>T	XP_011538277.1:n.-57-592C>T
XM_017016437.1:c.-397C>T	XP_016871926.1:n.-397C>T
XR_001747142.1:n.1078C>T
XR_001747144.1:n.1078C>T
XR_002956991.1:n.1078C>T
XR_945788.2:n.1078C>T
NM_021830.5:c.904C>T MANE Select	NP_068602.2:p.Arg302Trp
NM_001163812.2:c.904C>T	NP_001157284.1:p.Arg302Trp
NM_001163813.2:c.-119-530C>T	NP_001157285.1:n.-119-530C>T
NM_001163814.2:c.-119-530C>T	NP_001157286.1:n.-119-530C>T
NM_001368275.1:c.-57-592C>T	NP_001355204.1:n.-57-592C>T
NR_160738.1:n.1572C>T
NR_160739.1:n.72-530C>T
NR_160740.1:n.1572C>T
NR_160741.1:n.1572C>T
NR_160742.1:n.1572C>T