Canonical Allele Identifier: CA5653257

Gene: TWNK

Linked Data

• dbSNP Id: rs371334193
• ExAC: 10:102750203 G / T
• gnomAD v2: 10-102750203-G-T
• gnomAD v3: 10-100990446-G-T
• gnomAD v4: 10-100990446-G-T
• COSMIC: COSM1188027
• MyVariant Identifiers: chr10:g.102750203G>T (hg19) ; chr10:g.100990446G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100990446G>T , CM000672.2:g.100990446G>T	GRCh38
NC_000010.10:g.102750203G>T , CM000672.1:g.102750203G>T	GRCh37
NC_000010.9:g.102740193G>T	NCBI36
NG_011646.1:g.2070C>A
NG_012624.1:g.7911G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1495G>T MANE Select	ENSP00000309595.2:p.Asp499Tyr
ENST00000370228.2:c.1495G>T	ENSP00000359248.1:p.Asp499Tyr
ENST00000643860.1:c.1495G>T	ENSP00000494389.1:p.Asp499Tyr
ENST00000646226.1:n.310G>T
ENST00000647109.1:c.154G>T
ENST00000650396.1:c.456G>T
ENST00000311916.6:c.1495G>T	ENSP00000309595.2:p.Asp499Tyr
ENST00000370228.1:c.1495G>T	ENSP00000359248.1:p.Asp499Tyr
ENST00000473656.5:n.316G>T
ENST00000476766.5:n.381G>T
NM_001163812.1:c.1495G>T	NP_001157284.1:p.Asp499Tyr
NM_001163813.1:c.133G>T	NP_001157285.1:p.Asp45Tyr
NM_001163814.1:c.133G>T	NP_001157286.1:p.Asp45Tyr
NM_021830.4:c.1495G>T	NP_068602.2:p.Asp499Tyr
XM_011539974.1:c.133G>T	XP_011538276.1:p.Asp45Tyr
XM_011539975.1:c.133G>T	XP_011538277.1:p.Asp45Tyr
XR_945788.1:n.2266G>T
XM_011539975.2:c.133G>T	XP_011538277.1:p.Asp45Tyr
XM_017016437.1:c.133G>T	XP_016871926.1:p.Asp45Tyr
XR_001747142.1:n.1669G>T
XR_001747144.1:n.1607G>T
XR_002956991.1:n.1607G>T
XR_945788.2:n.1607G>T
NM_021830.5:c.1495G>T MANE Select	NP_068602.2:p.Asp499Tyr
NM_001163812.2:c.1495G>T	NP_001157284.1:p.Asp499Tyr
NM_001163813.2:c.133G>T	NP_001157285.1:p.Asp45Tyr
NM_001163814.2:c.133G>T	NP_001157286.1:p.Asp45Tyr
NM_001368275.1:c.133G>T	NP_001355204.1:p.Asp45Tyr
NR_160738.1:n.2163G>T
NR_160739.1:n.323G>T
NR_160740.1:n.2101G>T
NR_160741.1:n.2101G>T
NR_160742.1:n.2101G>T