Canonical Allele Identifier: CA5653252

Gene: TWNK

Linked Data

• ClinVar Variation Id: 298502
• ClinVar RCV Id: RCV000301666 ; RCV000356457 ; RCV000359896 ; RCV000395193 ; RCV003105861 ; RCV004544498
• dbSNP Id: rs549767223
• ExAC: 10:102750196 T / C
• gnomAD v2: 10-102750196-T-C
• gnomAD v3: 10-100990439-T-C
• gnomAD v4: 10-100990439-T-C
• MyVariant Identifiers: chr10:g.102750196T>C (hg19) ; chr10:g.100990439T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100990439T>C , CM000672.2:g.100990439T>C	GRCh38
NC_000010.10:g.102750196T>C , CM000672.1:g.102750196T>C	GRCh37
NC_000010.9:g.102740186T>C	NCBI36
NG_011646.1:g.2077A>G
NG_012624.1:g.7904T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1488T>C MANE Select	ENSP00000309595.2:p.Thr496=
ENST00000370228.2:c.1488T>C	ENSP00000359248.1:p.Thr496=
ENST00000643860.1:c.1488T>C	ENSP00000494389.1:p.Thr496=
ENST00000646226.1:n.303T>C
ENST00000647109.1:c.147T>C
ENST00000650396.1:c.449T>C
ENST00000311916.6:c.1488T>C	ENSP00000309595.2:p.Thr496=
ENST00000370228.1:c.1488T>C	ENSP00000359248.1:p.Thr496=
ENST00000473656.5:n.309T>C
ENST00000476766.5:n.374T>C
NM_001163812.1:c.1488T>C	NP_001157284.1:p.Thr496=
NM_001163813.1:c.126T>C	NP_001157285.1:p.Thr42=
NM_001163814.1:c.126T>C	NP_001157286.1:p.Thr42=
NM_021830.4:c.1488T>C	NP_068602.2:p.Thr496=
XM_011539974.1:c.126T>C	XP_011538276.1:p.Thr42=
XM_011539975.1:c.126T>C	XP_011538277.1:p.Thr42=
XR_945788.1:n.2259T>C
XM_011539975.2:c.126T>C	XP_011538277.1:p.Thr42=
XM_017016437.1:c.126T>C	XP_016871926.1:p.Thr42=
XR_001747142.1:n.1662T>C
XR_001747144.1:n.1600T>C
XR_002956991.1:n.1600T>C
XR_945788.2:n.1600T>C
NM_021830.5:c.1488T>C MANE Select	NP_068602.2:p.Thr496=
NM_001163812.2:c.1488T>C	NP_001157284.1:p.Thr496=
NM_001163813.2:c.126T>C	NP_001157285.1:p.Thr42=
NM_001163814.2:c.126T>C	NP_001157286.1:p.Thr42=
NM_001368275.1:c.126T>C	NP_001355204.1:p.Thr42=
NR_160738.1:n.2156T>C
NR_160739.1:n.316T>C
NR_160740.1:n.2094T>C
NR_160741.1:n.2094T>C
NR_160742.1:n.2094T>C