Canonical Allele Identifier: CA378210914

Gene: TWNK

Linked Data

• ClinVar Variation Id: 638300
• ClinVar RCV Id: RCV000790907
• dbSNP Id: rs1590020571
• MyVariant Identifiers: chr10:g.102749598C>G (hg19) ; chr10:g.100989841C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989841C>G , CM000672.2:g.100989841C>G	GRCh38
NC_000010.10:g.102749598C>G , CM000672.1:g.102749598C>G	GRCh37
NC_000010.9:g.102739588C>G	NCBI36
NG_011646.1:g.2675G>C
NG_012624.1:g.7306C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1441C>G MANE Select	ENSP00000309595.2:p.Leu481Val
ENST00000370228.2:c.1441C>G	ENSP00000359248.1:p.Leu481Val
ENST00000643860.1:c.1441C>G	ENSP00000494389.1:p.Leu481Val
ENST00000646226.1:n.256C>G
ENST00000647109.1:c.100C>G
ENST00000650396.1:c.402C>G
ENST00000311916.6:c.1441C>G	ENSP00000309595.2:p.Leu481Val
ENST00000370228.1:c.1441C>G	ENSP00000359248.1:p.Leu481Val
ENST00000459764.1:n.284C>G
ENST00000473656.5:n.262C>G
ENST00000476766.5:n.327C>G
NM_001163812.1:c.1441C>G	NP_001157284.1:p.Leu481Val
NM_001163813.1:c.79C>G	NP_001157285.1:p.Leu27Val
NM_001163814.1:c.79C>G	NP_001157286.1:p.Leu27Val
NM_021830.4:c.1441C>G	NP_068602.2:p.Leu481Val
XM_011539974.1:c.79C>G	XP_011538276.1:p.Leu27Val
XM_011539975.1:c.79C>G	XP_011538277.1:p.Leu27Val
XR_945788.1:n.2212C>G
XM_011539975.2:c.79C>G	XP_011538277.1:p.Leu27Val
XM_017016437.1:c.79C>G	XP_016871926.1:p.Leu27Val
XR_001747142.1:n.1615C>G
XR_001747144.1:n.1553C>G
XR_002956991.1:n.1553C>G
XR_945788.2:n.1553C>G
NM_021830.5:c.1441C>G MANE Select	NP_068602.2:p.Leu481Val
NM_001163812.2:c.1441C>G	NP_001157284.1:p.Leu481Val
NM_001163813.2:c.79C>G	NP_001157285.1:p.Leu27Val
NM_001163814.2:c.79C>G	NP_001157286.1:p.Leu27Val
NM_001368275.1:c.79C>G	NP_001355204.1:p.Leu27Val
NR_160738.1:n.2109C>G
NR_160739.1:n.269C>G
NR_160740.1:n.2047C>G
NR_160741.1:n.2047C>G
NR_160742.1:n.2047C>G