Canonical Allele Identifier: CA5653312

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100990988C>T , CM000672.2:g.100990988C>T	GRCh38
NC_000010.10:g.102750745C>T , CM000672.1:g.102750745C>T	GRCh37
NC_000010.9:g.102740735C>T	NCBI36
NG_011646.1:g.1528G>A
NG_012624.1:g.8453C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021830.5:c.1712C>T MANE Select	NP_068602.2:p.Ala571Val
ENST00000311916.8:c.1712C>T MANE Select	ENSP00000309595.2:p.Ala571Val
NM_001163812.1:c.1712C>T	NP_001157284.1:p.Ala571Val
NM_001163812.2:c.1712C>T	NP_001157284.1:p.Ala571Val
NM_001163813.1:c.350C>T	NP_001157285.1:p.Ala117Val
NM_001163813.2:c.350C>T	NP_001157285.1:p.Ala117Val
NM_001163814.1:c.350C>T	NP_001157286.1:p.Ala117Val
NM_001163814.2:c.350C>T	NP_001157286.1:p.Ala117Val
NM_001368275.1:c.350C>T	NP_001355204.1:p.Ala117Val
NM_021830.4:c.1712C>T	NP_068602.2:p.Ala571Val
NR_160738.1:n.2500C>T
NR_160739.1:n.660C>T
NR_160740.1:n.2318C>T
NR_160741.1:n.2318C>T
NR_160742.1:n.2438C>T
ENST00000311916.6:c.1712C>T	ENSP00000309595.2:p.Ala571Val
ENST00000370228.1:c.1712C>T	ENSP00000359248.1:p.Ala571Val
ENST00000370228.2:c.1712C>T	ENSP00000359248.1:p.Ala571Val
ENST00000473656.5:n.533C>T
ENST00000476766.5:n.598C>T
ENST00000643860.1:c.*236C>T	ENSP00000494389.1:n.*236C>T
ENST00000646226.1:n.527C>T
ENST00000647109.1:c.371C>T
ENST00000650396.1:c.793C>T
XM_011539974.1:c.350C>T	XP_011538276.1:p.Ala117Val
XM_011539975.1:c.350C>T	XP_011538277.1:p.Ala117Val
XM_011539975.2:c.350C>T	XP_011538277.1:p.Ala117Val
XM_017016437.1:c.350C>T	XP_016871926.1:p.Ala117Val
XR_001747142.1:n.2006C>T
XR_001747144.1:n.1944C>T
XR_002956991.1:n.1824C>T
XR_945788.1:n.2483C>T
XR_945788.2:n.1824C>T