Canonical Allele Identifier: CA324977

Gene: TWNK

Linked Data

• ClinVar Variation Id: 214178
• ClinVar RCV Id: RCV000267823 ; RCV000322888 ; RCV000326494 ; RCV000381173 ; RCV000712523 ; RCV001838991
• dbSNP Id: rs370814108
• ExAC: 10:102753187 G / A
• gnomAD v2: 10-102753187-G-A
• gnomAD v3: 10-100993430-G-A
• gnomAD v4: 10-100993430-G-A
• COSMIC: COSM3686478
• MyVariant Identifiers: chr10:g.102753187G>A (hg19) ; chr10:g.100993430G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100993430G>A , CM000672.2:g.100993430G>A	GRCh38
NC_000010.10:g.102753187G>A , CM000672.1:g.102753187G>A	GRCh37
NC_000010.9:g.102743177G>A	NCBI36
NG_012624.1:g.10895G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1975G>A MANE Select	ENSP00000309595.2:p.Ala659Thr
ENST00000370228.2:c.*270G>A	ENSP00000359248.1:n.*270G>A
ENST00000643860.1:c.*499G>A	ENSP00000494389.1:n.*499G>A
ENST00000647109.1:c.678G>A
ENST00000650396.1:c.1100G>A
ENST00000311916.6:c.1975G>A	ENSP00000309595.2:p.Ala659Thr
ENST00000370228.1:c.*270G>A	ENSP00000359248.1:n.*270G>A
ENST00000473656.5:n.796G>A
NM_001163812.1:c.*270G>A	NP_001157284.1:n.*270G>A
NM_001163813.1:c.613G>A	NP_001157285.1:p.Ala205Thr
NM_001163814.1:c.*270G>A	NP_001157286.1:n.*270G>A
NM_021830.4:c.1975G>A	NP_068602.2:p.Ala659Thr
XM_011539974.1:c.613G>A	XP_011538276.1:p.Ala205Thr
XM_011539975.1:c.613G>A	XP_011538277.1:p.Ala205Thr
XM_011539975.2:c.613G>A	XP_011538277.1:p.Ala205Thr
XM_017016437.1:c.613G>A	XP_016871926.1:p.Ala205Thr
XR_001747142.1:n.2269G>A
XR_001747144.1:n.2251G>A
XR_002956991.1:n.2087G>A
XR_945788.2:n.2131G>A
NM_021830.5:c.1975G>A MANE Select	NP_068602.2:p.Ala659Thr
NM_001163812.2:c.*270G>A	NP_001157284.1:n.*270G>A
NM_001163813.2:c.613G>A	NP_001157285.1:p.Ala205Thr
NM_001163814.2:c.*270G>A	NP_001157286.1:n.*270G>A
NM_001368275.1:c.613G>A	NP_001355204.1:p.Ala205Thr
NR_160738.1:n.2763G>A
NR_160739.1:n.967G>A
NR_160740.1:n.2625G>A
NR_160741.1:n.2581G>A
NR_160742.1:n.2745G>A