Canonical Allele Identifier: CA378210765

Gene: TWNK

Linked Data

• MyVariant Identifiers: chr10:g.102749541G>C (hg19) ; chr10:g.100989784G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989784G>C , CM000672.2:g.100989784G>C	GRCh38
NC_000010.10:g.102749541G>C , CM000672.1:g.102749541G>C	GRCh37
NC_000010.9:g.102739531G>C	NCBI36
NG_011646.1:g.2732C>G
NG_012624.1:g.7249G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1384G>C MANE Select	ENSP00000309595.2:p.Gly462Arg
ENST00000370228.2:c.1384G>C	ENSP00000359248.1:p.Gly462Arg
ENST00000643860.1:c.1384G>C	ENSP00000494389.1:p.Gly462Arg
ENST00000646226.1:n.199G>C
ENST00000647109.1:c.43G>C
ENST00000650396.1:c.345G>C
ENST00000311916.6:c.1384G>C	ENSP00000309595.2:p.Gly462Arg
ENST00000370228.1:c.1384G>C	ENSP00000359248.1:p.Gly462Arg
ENST00000459764.1:n.227G>C
ENST00000473656.5:n.205G>C
ENST00000476766.5:n.270G>C
NM_001163812.1:c.1384G>C	NP_001157284.1:p.Gly462Arg
NM_001163813.1:c.22G>C	NP_001157285.1:p.Gly8Arg
NM_001163814.1:c.22G>C	NP_001157286.1:p.Gly8Arg
NM_021830.4:c.1384G>C	NP_068602.2:p.Gly462Arg
XM_011539974.1:c.22G>C	XP_011538276.1:p.Gly8Arg
XM_011539975.1:c.22G>C	XP_011538277.1:p.Gly8Arg
XR_945788.1:n.2155G>C
XM_011539975.2:c.22G>C	XP_011538277.1:p.Gly8Arg
XM_017016437.1:c.22G>C	XP_016871926.1:p.Gly8Arg
XR_001747142.1:n.1558G>C
XR_001747144.1:n.1496G>C
XR_002956991.1:n.1496G>C
XR_945788.2:n.1496G>C
NM_021830.5:c.1384G>C MANE Select	NP_068602.2:p.Gly462Arg
NM_001163812.2:c.1384G>C	NP_001157284.1:p.Gly462Arg
NM_001163813.2:c.22G>C	NP_001157285.1:p.Gly8Arg
NM_001163814.2:c.22G>C	NP_001157286.1:p.Gly8Arg
NM_001368275.1:c.22G>C	NP_001355204.1:p.Gly8Arg
NR_160738.1:n.2052G>C
NR_160739.1:n.212G>C
NR_160740.1:n.1990G>C
NR_160741.1:n.1990G>C
NR_160742.1:n.1990G>C