Canonical Allele Identifier: CA116958

Gene: TWNK

Linked Data

• ClinVar Variation Id: 4617
• ClinVar RCV Id: RCV000004880
• dbSNP Id: rs111033572
• MyVariant Identifiers: chr10:g.102749580G>C (hg19) ; chr10:g.100989823G>C (hg38)
• PubMed: PMID:10522883 ; PMID:11431692

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989823G>C , CM000672.2:g.100989823G>C	GRCh38
NC_000010.10:g.102749580G>C , CM000672.1:g.102749580G>C	GRCh37
NC_000010.9:g.102739570G>C	NCBI36
NG_011646.1:g.2693C>G
NG_012624.1:g.7288G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1423G>C MANE Select	ENSP00000309595.2:p.Ala475Pro
ENST00000370228.2:c.1423G>C	ENSP00000359248.1:p.Ala475Pro
ENST00000643860.1:c.1423G>C	ENSP00000494389.1:p.Ala475Pro
ENST00000646226.1:n.238G>C
ENST00000647109.1:c.82G>C
ENST00000650396.1:c.384G>C
ENST00000311916.6:c.1423G>C	ENSP00000309595.2:p.Ala475Pro
ENST00000370228.1:c.1423G>C	ENSP00000359248.1:p.Ala475Pro
ENST00000459764.1:n.266G>C
ENST00000473656.5:n.244G>C
ENST00000476766.5:n.309G>C
NM_001163812.1:c.1423G>C	NP_001157284.1:p.Ala475Pro
NM_001163813.1:c.61G>C	NP_001157285.1:p.Ala21Pro
NM_001163814.1:c.61G>C	NP_001157286.1:p.Ala21Pro
NM_021830.4:c.1423G>C	NP_068602.2:p.Ala475Pro
XM_011539974.1:c.61G>C	XP_011538276.1:p.Ala21Pro
XM_011539975.1:c.61G>C	XP_011538277.1:p.Ala21Pro
XR_945788.1:n.2194G>C
XM_011539975.2:c.61G>C	XP_011538277.1:p.Ala21Pro
XM_017016437.1:c.61G>C	XP_016871926.1:p.Ala21Pro
XR_001747142.1:n.1597G>C
XR_001747144.1:n.1535G>C
XR_002956991.1:n.1535G>C
XR_945788.2:n.1535G>C
NM_021830.5:c.1423G>C MANE Select	NP_068602.2:p.Ala475Pro
NM_001163812.2:c.1423G>C	NP_001157284.1:p.Ala475Pro
NM_001163813.2:c.61G>C	NP_001157285.1:p.Ala21Pro
NM_001163814.2:c.61G>C	NP_001157286.1:p.Ala21Pro
NM_001368275.1:c.61G>C	NP_001355204.1:p.Ala21Pro
NR_160738.1:n.2091G>C
NR_160739.1:n.251G>C
NR_160740.1:n.2029G>C
NR_160741.1:n.2029G>C
NR_160742.1:n.2029G>C