Canonical Allele Identifier: CA5653217

Gene: TWNK

Linked Data

• ClinVar Variation Id: 418602
• ClinVar RCV Id: RCV000487273
• dbSNP Id: rs572114433
• ExAC: 10:102749514 C / T
• gnomAD v2: 10-102749514-C-T
• gnomAD v4: 10-100989757-C-T
• COSMIC: COSM1345348
• MyVariant Identifiers: chr10:g.102749514C>T (hg19) ; chr10:g.100989757C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989757C>T , CM000672.2:g.100989757C>T	GRCh38
NC_000010.10:g.102749514C>T , CM000672.1:g.102749514C>T	GRCh37
NC_000010.9:g.102739504C>T	NCBI36
NG_011646.1:g.2759G>A
NG_012624.1:g.7222C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1357C>T MANE Select	ENSP00000309595.2:p.Arg453Trp
ENST00000370228.2:c.1357C>T	ENSP00000359248.1:p.Arg453Trp
ENST00000643860.1:c.1357C>T	ENSP00000494389.1:p.Arg453Trp
ENST00000646226.1:n.172C>T
ENST00000647109.1:c.34-18C>T
ENST00000650396.1:c.318C>T
ENST00000311916.6:c.1357C>T	ENSP00000309595.2:p.Arg453Trp
ENST00000370228.1:c.1357C>T	ENSP00000359248.1:p.Arg453Trp
ENST00000459764.1:n.200C>T
ENST00000473656.5:n.178C>T
ENST00000476766.5:n.243C>T
NM_001163812.1:c.1357C>T	NP_001157284.1:p.Arg453Trp
NM_001163813.1:c.-6C>T	NP_001157285.1:n.-6C>T
NM_001163814.1:c.-6C>T	NP_001157286.1:n.-6C>T
NM_021830.4:c.1357C>T	NP_068602.2:p.Arg453Trp
XM_011539974.1:c.-6C>T	XP_011538276.1:n.-6C>T
XM_011539975.1:c.-6C>T	XP_011538277.1:n.-6C>T
XR_945788.1:n.2128C>T
XM_011539975.2:c.-6C>T	XP_011538277.1:n.-6C>T
XM_017016437.1:c.-6C>T	XP_016871926.1:n.-6C>T
XR_001747142.1:n.1531C>T
XR_001747144.1:n.1469C>T
XR_002956991.1:n.1469C>T
XR_945788.2:n.1469C>T
NM_021830.5:c.1357C>T MANE Select	NP_068602.2:p.Arg453Trp
NM_001163812.2:c.1357C>T	NP_001157284.1:p.Arg453Trp
NM_001163813.2:c.-6C>T	NP_001157285.1:n.-6C>T
NM_001163814.2:c.-6C>T	NP_001157286.1:n.-6C>T
NM_001368275.1:c.-6C>T	NP_001355204.1:n.-6C>T
NR_160738.1:n.2025C>T
NR_160739.1:n.185C>T
NR_160740.1:n.1963C>T
NR_160741.1:n.1963C>T
NR_160742.1:n.1963C>T