Canonical Allele Identifier: CA5653034

Gene: TWNK

Linked Data

• ClinVar Variation Id: 1309254
• ClinVar RCV Id: RCV001765423
• dbSNP Id: rs753640924
• ExAC: 10:102748160 C / T
• gnomAD v2: 10-102748160-C-T
• gnomAD v3: 10-100988403-C-T
• gnomAD v4: 10-100988403-C-T
• MyVariant Identifiers: chr10:g.102748160C>T (hg19) ; chr10:g.100988403C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100988403C>T , CM000672.2:g.100988403C>T	GRCh38
NC_000010.10:g.102748160C>T , CM000672.1:g.102748160C>T	GRCh37
NC_000010.9:g.102738150C>T	NCBI36
NG_011646.1:g.4113G>A
NG_012624.1:g.5868C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.193C>T MANE Select	ENSP00000309595.2:p.Arg65Trp
ENST00000370228.2:c.193C>T	ENSP00000359248.1:p.Arg65Trp
ENST00000643860.1:c.193C>T	ENSP00000494389.1:p.Arg65Trp
ENST00000646226.1:n.58+790C>T
ENST00000311916.6:c.193C>T	ENSP00000309595.2:p.Arg65Trp
ENST00000370228.1:c.193C>T	ENSP00000359248.1:p.Arg65Trp
ENST00000459764.1:n.86+523C>T
ENST00000473656.5:n.64+790C>T
ENST00000476766.5:n.191+846C>T
NM_001163812.1:c.193C>T	NP_001157284.1:p.Arg65Trp
NM_001163813.1:c.-120+790C>T	NP_001157285.1:n.-120+790C>T
NM_001163814.1:c.-120+790C>T	NP_001157286.1:n.-120+790C>T
NM_021830.4:c.193C>T	NP_068602.2:p.Arg65Trp
XM_011539975.1:c.-58+790C>T	XP_011538277.1:n.-58+790C>T
XR_945788.1:n.1026C>T
XM_011539975.2:c.-58+790C>T	XP_011538277.1:n.-58+790C>T
XM_017016437.1:c.-1108C>T	XP_016871926.1:n.-1108C>T
XR_001747142.1:n.367C>T
XR_001747144.1:n.367C>T
XR_002956991.1:n.367C>T
XR_945788.2:n.367C>T
NM_021830.5:c.193C>T MANE Select	NP_068602.2:p.Arg65Trp
NM_001163812.2:c.193C>T	NP_001157284.1:p.Arg65Trp
NM_001163813.2:c.-120+790C>T	NP_001157285.1:n.-120+790C>T
NM_001163814.2:c.-120+790C>T	NP_001157286.1:n.-120+790C>T
NM_001368275.1:c.-58+790C>T	NP_001355204.1:n.-58+790C>T
NR_160738.1:n.861C>T
NR_160739.1:n.71+790C>T
NR_160740.1:n.861C>T
NR_160741.1:n.861C>T
NR_160742.1:n.861C>T