Canonical Allele Identifier: CA378210883

Gene: TWNK

Linked Data

• ClinVar Variation Id: 1967727
• ClinVar RCV Id: RCV002726960
• MyVariant Identifiers: chr10:g.102749584A>T (hg19) ; chr10:g.100989827A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989827A>T , CM000672.2:g.100989827A>T	GRCh38
NC_000010.10:g.102749584A>T , CM000672.1:g.102749584A>T	GRCh37
NC_000010.9:g.102739574A>T	NCBI36
NG_011646.1:g.2689T>A
NG_012624.1:g.7292A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1427A>T MANE Select	ENSP00000309595.2:p.Asp476Val
ENST00000370228.2:c.1427A>T	ENSP00000359248.1:p.Asp476Val
ENST00000643860.1:c.1427A>T	ENSP00000494389.1:p.Asp476Val
ENST00000646226.1:n.242A>T
ENST00000647109.1:c.86A>T
ENST00000650396.1:c.388A>T
ENST00000311916.6:c.1427A>T	ENSP00000309595.2:p.Asp476Val
ENST00000370228.1:c.1427A>T	ENSP00000359248.1:p.Asp476Val
ENST00000459764.1:n.270A>T
ENST00000473656.5:n.248A>T
ENST00000476766.5:n.313A>T
NM_001163812.1:c.1427A>T	NP_001157284.1:p.Asp476Val
NM_001163813.1:c.65A>T	NP_001157285.1:p.Asp22Val
NM_001163814.1:c.65A>T	NP_001157286.1:p.Asp22Val
NM_021830.4:c.1427A>T	NP_068602.2:p.Asp476Val
XM_011539974.1:c.65A>T	XP_011538276.1:p.Asp22Val
XM_011539975.1:c.65A>T	XP_011538277.1:p.Asp22Val
XR_945788.1:n.2198A>T
XM_011539975.2:c.65A>T	XP_011538277.1:p.Asp22Val
XM_017016437.1:c.65A>T	XP_016871926.1:p.Asp22Val
XR_001747142.1:n.1601A>T
XR_001747144.1:n.1539A>T
XR_002956991.1:n.1539A>T
XR_945788.2:n.1539A>T
NM_021830.5:c.1427A>T MANE Select	NP_068602.2:p.Asp476Val
NM_001163812.2:c.1427A>T	NP_001157284.1:p.Asp476Val
NM_001163813.2:c.65A>T	NP_001157285.1:p.Asp22Val
NM_001163814.2:c.65A>T	NP_001157286.1:p.Asp22Val
NM_001368275.1:c.65A>T	NP_001355204.1:p.Asp22Val
NR_160738.1:n.2095A>T
NR_160739.1:n.255A>T
NR_160740.1:n.2033A>T
NR_160741.1:n.2033A>T
NR_160742.1:n.2033A>T