Canonical Allele Identifier: CA471268680

Gene: TWNK

Linked Data

• MyVariant Identifiers: chr10:g.102748510C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100988753C>T , CM000672.2:g.100988753C>T	GRCh38
NC_000010.10:g.102748510C>T , CM000672.1:g.102748510C>T	GRCh37
NC_000010.9:g.102738500C>T	NCBI36
NG_011646.1:g.3763G>A
NG_012624.1:g.6218C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000311916.8:c.543C>T MANE Select	ENSP00000309595.2:p.Gly181=
ENST00000370228.2:c.543C>T	ENSP00000359248.1:p.Gly181=
ENST00000643860.1:c.543C>T	ENSP00000494389.1:p.Gly181=
ENST00000646226.1:n.59-891C>T
ENST00000311916.6:c.543C>T	ENSP00000309595.2:p.Gly181=
ENST00000370228.1:c.543C>T	ENSP00000359248.1:p.Gly181=
ENST00000459764.1:n.86+873C>T
ENST00000473656.5:n.65-891C>T
ENST00000476766.5:n.192-953C>T
NM_001163812.1:c.543C>T	NP_001157284.1:p.Gly181=
NM_001163813.1:c.-119-891C>T	NP_001157285.1:n.-119-891C>T
NM_001163814.1:c.-119-891C>T	NP_001157286.1:n.-119-891C>T
NM_021830.4:c.543C>T	NP_068602.2:p.Gly181=
XM_011539975.1:c.-57-953C>T	XP_011538277.1:n.-57-953C>T
XR_945788.1:n.1376C>T
XM_011539975.2:c.-57-953C>T	XP_011538277.1:n.-57-953C>T
XM_017016437.1:c.-758C>T	XP_016871926.1:n.-758C>T
XR_001747142.1:n.717C>T
XR_001747144.1:n.717C>T
XR_002956991.1:n.717C>T
XR_945788.2:n.717C>T
NM_021830.5:c.543C>T MANE Select	NP_068602.2:p.Gly181=
NM_001163812.2:c.543C>T	NP_001157284.1:p.Gly181=
NM_001163813.2:c.-119-891C>T	NP_001157285.1:n.-119-891C>T
NM_001163814.2:c.-119-891C>T	NP_001157286.1:n.-119-891C>T
NM_001368275.1:c.-57-953C>T	NP_001355204.1:n.-57-953C>T
NR_160738.1:n.1211C>T
NR_160739.1:n.72-891C>T
NR_160740.1:n.1211C>T
NR_160741.1:n.1211C>T
NR_160742.1:n.1211C>T