Canonical Allele Identifier: CA378209644

Gene: TWNK

Linked Data

• ClinVar Variation Id: 426102
• ClinVar RCV Id: RCV000508711 ; RCV000497430 ; RCV001332412
• dbSNP Id: rs1554887028
• gnomAD v4: 10-100989213-C-A
• MyVariant Identifiers: chr10:g.102748970C>A (hg19) ; chr10:g.100989213C>A (hg38)
• PubMed: PMID:28812649

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989213C>A , CM000672.2:g.100989213C>A	GRCh38
NC_000010.10:g.102748970C>A , CM000672.1:g.102748970C>A	GRCh37
NC_000010.9:g.102738960C>A	NCBI36
NG_011646.1:g.3303G>T
NG_012624.1:g.6678C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1003C>A MANE Select	ENSP00000309595.2:p.Pro335Thr
ENST00000370228.2:c.1003C>A	ENSP00000359248.1:p.Pro335Thr
ENST00000643860.1:c.1003C>A	ENSP00000494389.1:p.Pro335Thr
ENST00000646226.1:n.59-431C>A
ENST00000650396.1:c.26C>A
ENST00000311916.6:c.1003C>A	ENSP00000309595.2:p.Pro335Thr
ENST00000370228.1:c.1003C>A	ENSP00000359248.1:p.Pro335Thr
ENST00000459764.1:n.87-431C>A
ENST00000473656.5:n.65-431C>A
ENST00000476766.5:n.192-493C>A
NM_001163812.1:c.1003C>A	NP_001157284.1:p.Pro335Thr
NM_001163813.1:c.-119-431C>A	NP_001157285.1:n.-119-431C>A
NM_001163814.1:c.-119-431C>A	NP_001157286.1:n.-119-431C>A
NM_021830.4:c.1003C>A	NP_068602.2:p.Pro335Thr
XM_011539975.1:c.-57-493C>A	XP_011538277.1:n.-57-493C>A
XR_945788.1:n.1836C>A
XM_011539975.2:c.-57-493C>A	XP_011538277.1:n.-57-493C>A
XM_017016437.1:c.-298C>A	XP_016871926.1:n.-298C>A
XR_001747142.1:n.1177C>A
XR_001747144.1:n.1177C>A
XR_002956991.1:n.1177C>A
XR_945788.2:n.1177C>A
NM_021830.5:c.1003C>A MANE Select	NP_068602.2:p.Pro335Thr
NM_001163812.2:c.1003C>A	NP_001157284.1:p.Pro335Thr
NM_001163813.2:c.-119-431C>A	NP_001157285.1:n.-119-431C>A
NM_001163814.2:c.-119-431C>A	NP_001157286.1:n.-119-431C>A
NM_001368275.1:c.-57-493C>A	NP_001355204.1:n.-57-493C>A
NR_160738.1:n.1671C>A
NR_160739.1:n.72-431C>A
NR_160740.1:n.1671C>A
NR_160741.1:n.1671C>A
NR_160742.1:n.1671C>A