Canonical Allele Identifier: CA5653302

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100990903C>T , CM000672.2:g.100990903C>T	GRCh38
NC_000010.10:g.102750660C>T , CM000672.1:g.102750660C>T	GRCh37
NC_000010.9:g.102740650C>T	NCBI36
NG_011646.1:g.1613G>A
NG_012624.1:g.8368C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021830.5:c.1627C>T MANE Select	NP_068602.2:p.Arg543Trp
ENST00000311916.8:c.1627C>T MANE Select	ENSP00000309595.2:p.Arg543Trp
NM_001163812.1:c.1627C>T	NP_001157284.1:p.Arg543Trp
NM_001163812.2:c.1627C>T	NP_001157284.1:p.Arg543Trp
NM_001163813.1:c.265C>T	NP_001157285.1:p.Arg89Trp
NM_001163813.2:c.265C>T	NP_001157285.1:p.Arg89Trp
NM_001163814.1:c.265C>T	NP_001157286.1:p.Arg89Trp
NM_001163814.2:c.265C>T	NP_001157286.1:p.Arg89Trp
NM_001368275.1:c.265C>T	NP_001355204.1:p.Arg89Trp
NM_021830.4:c.1627C>T	NP_068602.2:p.Arg543Trp
NR_160738.1:n.2415C>T
NR_160739.1:n.575C>T
NR_160740.1:n.2233C>T
NR_160741.1:n.2233C>T
NR_160742.1:n.2353C>T
ENST00000311916.6:c.1627C>T	ENSP00000309595.2:p.Arg543Trp
ENST00000370228.1:c.1627C>T	ENSP00000359248.1:p.Arg543Trp
ENST00000370228.2:c.1627C>T	ENSP00000359248.1:p.Arg543Trp
ENST00000473656.5:n.448C>T
ENST00000476766.5:n.513C>T
ENST00000643860.1:c.*151C>T	ENSP00000494389.1:n.*151C>T
ENST00000646226.1:n.442C>T
ENST00000647109.1:c.286C>T
ENST00000650396.1:c.708C>T
XM_011539974.1:c.265C>T	XP_011538276.1:p.Arg89Trp
XM_011539975.1:c.265C>T	XP_011538277.1:p.Arg89Trp
XM_011539975.2:c.265C>T	XP_011538277.1:p.Arg89Trp
XM_017016437.1:c.265C>T	XP_016871926.1:p.Arg89Trp
XR_001747142.1:n.1921C>T
XR_001747144.1:n.1859C>T
XR_002956991.1:n.1739C>T
XR_945788.1:n.2398C>T
XR_945788.2:n.1739C>T