Canonical Allele Identifier: CA378210958

Gene: TWNK

Linked Data

• dbSNP Id: rs1564809364
• gnomAD v2: 10-102749617-C-T
• MyVariant Identifiers: chr10:g.102749617C>T (hg19) ; chr10:g.100989860C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989860C>T , CM000672.2:g.100989860C>T	GRCh38
NC_000010.10:g.102749617C>T , CM000672.1:g.102749617C>T	GRCh37
NC_000010.9:g.102739607C>T	NCBI36
NG_011646.1:g.2656G>A
NG_012624.1:g.7325C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1460C>T MANE Select	ENSP00000309595.2:p.Thr487Ile
ENST00000370228.2:c.1460C>T	ENSP00000359248.1:p.Thr487Ile
ENST00000643860.1:c.1460C>T	ENSP00000494389.1:p.Thr487Ile
ENST00000646226.1:n.275C>T
ENST00000647109.1:c.119C>T
ENST00000650396.1:c.421C>T
ENST00000311916.6:c.1460C>T	ENSP00000309595.2:p.Thr487Ile
ENST00000370228.1:c.1460C>T	ENSP00000359248.1:p.Thr487Ile
ENST00000459764.1:n.303C>T
ENST00000473656.5:n.281C>T
ENST00000476766.5:n.346C>T
NM_001163812.1:c.1460C>T	NP_001157284.1:p.Thr487Ile
NM_001163813.1:c.98C>T	NP_001157285.1:p.Thr33Ile
NM_001163814.1:c.98C>T	NP_001157286.1:p.Thr33Ile
NM_021830.4:c.1460C>T	NP_068602.2:p.Thr487Ile
XM_011539974.1:c.98C>T	XP_011538276.1:p.Thr33Ile
XM_011539975.1:c.98C>T	XP_011538277.1:p.Thr33Ile
XR_945788.1:n.2231C>T
XM_011539975.2:c.98C>T	XP_011538277.1:p.Thr33Ile
XM_017016437.1:c.98C>T	XP_016871926.1:p.Thr33Ile
XR_001747142.1:n.1634C>T
XR_001747144.1:n.1572C>T
XR_002956991.1:n.1572C>T
XR_945788.2:n.1572C>T
NM_021830.5:c.1460C>T MANE Select	NP_068602.2:p.Thr487Ile
NM_001163812.2:c.1460C>T	NP_001157284.1:p.Thr487Ile
NM_001163813.2:c.98C>T	NP_001157285.1:p.Thr33Ile
NM_001163814.2:c.98C>T	NP_001157286.1:p.Thr33Ile
NM_001368275.1:c.98C>T	NP_001355204.1:p.Thr33Ile
NR_160738.1:n.2128C>T
NR_160739.1:n.288C>T
NR_160740.1:n.2066C>T
NR_160741.1:n.2066C>T
NR_160742.1:n.2066C>T