Canonical Allele Identifier: CA378206380

Gene: TWNK

Linked Data

• ClinVar Variation Id: 1331220
• ClinVar RCV Id: RCV001806565
• dbSNP Id: rs1590017444
• MyVariant Identifiers: chr10:g.102748190C>T (hg19) ; chr10:g.100988433C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100988433C>T , CM000672.2:g.100988433C>T	GRCh38
NC_000010.10:g.102748190C>T , CM000672.1:g.102748190C>T	GRCh37
NC_000010.9:g.102738180C>T	NCBI36
NG_011646.1:g.4083G>A
NG_012624.1:g.5898C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.223C>T MANE Select	ENSP00000309595.2:p.His75Tyr
ENST00000370228.2:c.223C>T	ENSP00000359248.1:p.His75Tyr
ENST00000643860.1:c.223C>T	ENSP00000494389.1:p.His75Tyr
ENST00000646226.1:n.58+820C>T
ENST00000311916.6:c.223C>T	ENSP00000309595.2:p.His75Tyr
ENST00000370228.1:c.223C>T	ENSP00000359248.1:p.His75Tyr
ENST00000459764.1:n.86+553C>T
ENST00000473656.5:n.64+820C>T
ENST00000476766.5:n.191+876C>T
NM_001163812.1:c.223C>T	NP_001157284.1:p.His75Tyr
NM_001163813.1:c.-120+820C>T	NP_001157285.1:n.-120+820C>T
NM_001163814.1:c.-120+820C>T	NP_001157286.1:n.-120+820C>T
NM_021830.4:c.223C>T	NP_068602.2:p.His75Tyr
XM_011539975.1:c.-58+820C>T	XP_011538277.1:n.-58+820C>T
XR_945788.1:n.1056C>T
XM_011539975.2:c.-58+820C>T	XP_011538277.1:n.-58+820C>T
XM_017016437.1:c.-1078C>T	XP_016871926.1:n.-1078C>T
XR_001747142.1:n.397C>T
XR_001747144.1:n.397C>T
XR_002956991.1:n.397C>T
XR_945788.2:n.397C>T
NM_021830.5:c.223C>T MANE Select	NP_068602.2:p.His75Tyr
NM_001163812.2:c.223C>T	NP_001157284.1:p.His75Tyr
NM_001163813.2:c.-120+820C>T	NP_001157285.1:n.-120+820C>T
NM_001163814.2:c.-120+820C>T	NP_001157286.1:n.-120+820C>T
NM_001368275.1:c.-58+820C>T	NP_001355204.1:n.-58+820C>T
NR_160738.1:n.891C>T
NR_160739.1:n.71+820C>T
NR_160740.1:n.891C>T
NR_160741.1:n.891C>T
NR_160742.1:n.891C>T