Canonical Allele Identifier: CA378210839

Gene: TWNK

Linked Data

• ClinVar Variation Id: 2768494
• ClinVar RCV Id: RCV003576409
• MyVariant Identifiers: chr10:g.102749566A>C (hg19) ; chr10:g.100989809A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989809A>C , CM000672.2:g.100989809A>C	GRCh38
NC_000010.10:g.102749566A>C , CM000672.1:g.102749566A>C	GRCh37
NC_000010.9:g.102739556A>C	NCBI36
NG_011646.1:g.2707T>G
NG_012624.1:g.7274A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1409A>C MANE Select	ENSP00000309595.2:p.Lys470Thr
ENST00000370228.2:c.1409A>C	ENSP00000359248.1:p.Lys470Thr
ENST00000643860.1:c.1409A>C	ENSP00000494389.1:p.Lys470Thr
ENST00000646226.1:n.224A>C
ENST00000647109.1:c.68A>C
ENST00000650396.1:c.370A>C
ENST00000311916.6:c.1409A>C	ENSP00000309595.2:p.Lys470Thr
ENST00000370228.1:c.1409A>C	ENSP00000359248.1:p.Lys470Thr
ENST00000459764.1:n.252A>C
ENST00000473656.5:n.230A>C
ENST00000476766.5:n.295A>C
NM_001163812.1:c.1409A>C	NP_001157284.1:p.Lys470Thr
NM_001163813.1:c.47A>C	NP_001157285.1:p.Lys16Thr
NM_001163814.1:c.47A>C	NP_001157286.1:p.Lys16Thr
NM_021830.4:c.1409A>C	NP_068602.2:p.Lys470Thr
XM_011539974.1:c.47A>C	XP_011538276.1:p.Lys16Thr
XM_011539975.1:c.47A>C	XP_011538277.1:p.Lys16Thr
XR_945788.1:n.2180A>C
XM_011539975.2:c.47A>C	XP_011538277.1:p.Lys16Thr
XM_017016437.1:c.47A>C	XP_016871926.1:p.Lys16Thr
XR_001747142.1:n.1583A>C
XR_001747144.1:n.1521A>C
XR_002956991.1:n.1521A>C
XR_945788.2:n.1521A>C
NM_021830.5:c.1409A>C MANE Select	NP_068602.2:p.Lys470Thr
NM_001163812.2:c.1409A>C	NP_001157284.1:p.Lys470Thr
NM_001163813.2:c.47A>C	NP_001157285.1:p.Lys16Thr
NM_001163814.2:c.47A>C	NP_001157286.1:p.Lys16Thr
NM_001368275.1:c.47A>C	NP_001355204.1:p.Lys16Thr
NR_160738.1:n.2077A>C
NR_160739.1:n.237A>C
NR_160740.1:n.2015A>C
NR_160741.1:n.2015A>C
NR_160742.1:n.2015A>C