Canonical Allele Identifier: CA10627887

Gene: TWNK

Linked Data

• ClinVar Variation Id: 298520
• ClinVar RCV Id: RCV000312968 ; RCV000346808 ; RCV000352677 ; RCV000406316
• dbSNP Id: rs3740488
• gnomAD v2: 10-102754033-A-T
• gnomAD v3: 10-100994276-A-T
• gnomAD v4: 10-100994276-A-T
• MyVariant Identifiers: chr10:g.102754033A>T (hg19) ; chr10:g.100994276A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100994276A>T , CM000672.2:g.100994276A>T	GRCh38
NC_000010.10:g.102754033A>T , CM000672.1:g.102754033A>T	GRCh37
NC_000010.9:g.102744023A>T	NCBI36
NG_012624.1:g.11741A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000311916.8:c.*766A>T MANE Select	ENSP00000309595.2:n.*766A>T
ENST00000370228.2:c.*1116A>T	ENSP00000359248.1:n.*1116A>T
ENST00000643860.1:c.*1345A>T	ENSP00000494389.1:n.*1345A>T
ENST00000650396.1:c.1946A>T
ENST00000311916.6:c.*766A>T	ENSP00000309595.2:n.*766A>T
ENST00000370228.1:c.*1116A>T	ENSP00000359248.1:n.*1116A>T
NM_001163812.1:c.*1116A>T	NP_001157284.1:n.*1116A>T
NM_001163813.1:c.*766A>T	NP_001157285.1:n.*766A>T
NM_001163814.1:c.*1116A>T	NP_001157286.1:n.*1116A>T
NM_021830.4:c.*766A>T	NP_068602.2:n.*766A>T
XM_011539974.1:c.*766A>T	XP_011538276.1:n.*766A>T
XM_011539975.1:c.*766A>T	XP_011538277.1:n.*766A>T
XM_011539975.2:c.*766A>T	XP_011538277.1:n.*766A>T
XM_017016437.1:c.*766A>T	XP_016871926.1:n.*766A>T
XR_001747142.1:n.3115A>T
XR_001747144.1:n.3097A>T
XR_002956991.1:n.2933A>T
XR_945788.2:n.2977A>T
NM_021830.5:c.*766A>T MANE Select	NP_068602.2:n.*766A>T
NM_001163812.2:c.*1116A>T	NP_001157284.1:n.*1116A>T
NM_001163813.2:c.*766A>T	NP_001157285.1:n.*766A>T
NM_001163814.2:c.*1116A>T	NP_001157286.1:n.*1116A>T
NM_001368275.1:c.*766A>T	NP_001355204.1:n.*766A>T
NR_160738.1:n.3609A>T
NR_160739.1:n.1813A>T
NR_160740.1:n.3471A>T
NR_160741.1:n.3427A>T
NR_160742.1:n.3591A>T