Canonical Allele Identifier: CA116964

Gene: TWNK

Linked Data

• ClinVar Variation Id: 4622
• ClinVar RCV Id: RCV000004885 ; RCV000508905
• dbSNP Id: rs111033577
• MyVariant Identifiers: chr10:g.102749109T>C (hg19) ; chr10:g.100989352T>C (hg38)
• PubMed: PMID:11431692 ; PMID:20659899 ; PMID:28812649

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989352T>C , CM000672.2:g.100989352T>C	GRCh38
NC_000010.10:g.102749109T>C , CM000672.1:g.102749109T>C	GRCh37
NC_000010.9:g.102739099T>C	NCBI36
NG_011646.1:g.3164A>G
NG_012624.1:g.6817T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1142T>C MANE Select	ENSP00000309595.2:p.Leu381Pro
ENST00000370228.2:c.1142T>C	ENSP00000359248.1:p.Leu381Pro
ENST00000643860.1:c.1142T>C	ENSP00000494389.1:p.Leu381Pro
ENST00000646226.1:n.59-292T>C
ENST00000650396.1:c.165T>C
ENST00000311916.6:c.1142T>C	ENSP00000309595.2:p.Leu381Pro
ENST00000370228.1:c.1142T>C	ENSP00000359248.1:p.Leu381Pro
ENST00000459764.1:n.87-292T>C
ENST00000473656.5:n.65-292T>C
ENST00000476766.5:n.192-354T>C
NM_001163812.1:c.1142T>C	NP_001157284.1:p.Leu381Pro
NM_001163813.1:c.-119-292T>C	NP_001157285.1:n.-119-292T>C
NM_001163814.1:c.-119-292T>C	NP_001157286.1:n.-119-292T>C
NM_021830.4:c.1142T>C	NP_068602.2:p.Leu381Pro
XM_011539975.1:c.-57-354T>C	XP_011538277.1:n.-57-354T>C
XR_945788.1:n.1975T>C
XM_011539975.2:c.-57-354T>C	XP_011538277.1:n.-57-354T>C
XM_017016437.1:c.-159T>C	XP_016871926.1:n.-159T>C
XR_001747142.1:n.1316T>C
XR_001747144.1:n.1316T>C
XR_002956991.1:n.1316T>C
XR_945788.2:n.1316T>C
NM_021830.5:c.1142T>C MANE Select	NP_068602.2:p.Leu381Pro
NM_001163812.2:c.1142T>C	NP_001157284.1:p.Leu381Pro
NM_001163813.2:c.-119-292T>C	NP_001157285.1:n.-119-292T>C
NM_001163814.2:c.-119-292T>C	NP_001157286.1:n.-119-292T>C
NM_001368275.1:c.-57-354T>C	NP_001355204.1:n.-57-354T>C
NR_160738.1:n.1810T>C
NR_160739.1:n.72-292T>C
NR_160740.1:n.1810T>C
NR_160741.1:n.1810T>C
NR_160742.1:n.1810T>C