Canonical Allele Identifier: CA471268585

Gene: TWNK

Linked Data

• ClinVar Variation Id: 1963978
• ClinVar RCV Id: RCV002716309
• dbSNP Id: rs1344685740
• gnomAD v3: 10-100988471-T-G
• gnomAD v4: 10-100988471-T-G
• MyVariant Identifiers: chr10:g.102748228T>G (hg19) ; chr10:g.100988471T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100988471T>G , CM000672.2:g.100988471T>G	GRCh38
NC_000010.10:g.102748228T>G , CM000672.1:g.102748228T>G	GRCh37
NC_000010.9:g.102738218T>G	NCBI36
NG_011646.1:g.4045A>C
NG_012624.1:g.5936T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.261T>G MANE Select	ENSP00000309595.2:p.Ser87=
ENST00000370228.2:c.261T>G	ENSP00000359248.1:p.Ser87=
ENST00000643860.1:c.261T>G	ENSP00000494389.1:p.Ser87=
ENST00000646226.1:n.58+858T>G
ENST00000311916.6:c.261T>G	ENSP00000309595.2:p.Ser87=
ENST00000370228.1:c.261T>G	ENSP00000359248.1:p.Ser87=
ENST00000459764.1:n.86+591T>G
ENST00000473656.5:n.64+858T>G
ENST00000476766.5:n.191+914T>G
NM_001163812.1:c.261T>G	NP_001157284.1:p.Ser87=
NM_001163813.1:c.-120+858T>G	NP_001157285.1:n.-120+858T>G
NM_001163814.1:c.-120+858T>G	NP_001157286.1:n.-120+858T>G
NM_021830.4:c.261T>G	NP_068602.2:p.Ser87=
XM_011539975.1:c.-58+858T>G	XP_011538277.1:n.-58+858T>G
XR_945788.1:n.1094T>G
XM_011539975.2:c.-58+858T>G	XP_011538277.1:n.-58+858T>G
XM_017016437.1:c.-1040T>G	XP_016871926.1:n.-1040T>G
XR_001747142.1:n.435T>G
XR_001747144.1:n.435T>G
XR_002956991.1:n.435T>G
XR_945788.2:n.435T>G
NM_021830.5:c.261T>G MANE Select	NP_068602.2:p.Ser87=
NM_001163812.2:c.261T>G	NP_001157284.1:p.Ser87=
NM_001163813.2:c.-120+858T>G	NP_001157285.1:n.-120+858T>G
NM_001163814.2:c.-120+858T>G	NP_001157286.1:n.-120+858T>G
NM_001368275.1:c.-58+858T>G	NP_001355204.1:n.-58+858T>G
NR_160738.1:n.929T>G
NR_160739.1:n.71+858T>G
NR_160740.1:n.929T>G
NR_160741.1:n.929T>G
NR_160742.1:n.929T>G