Canonical Allele Identifier: CA2610580284

Gene: TWNK

Linked Data

• gnomAD v4: 10-100994375-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100994375C>T , CM000672.2:g.100994375C>T	GRCh38
NC_000010.10:g.102754132C>T , CM000672.1:g.102754132C>T	GRCh37
NC_000010.9:g.102744122C>T	NCBI36
NG_012624.1:g.11840C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.*865C>T MANE Select	ENSP00000309595.2:n.*865C>T
ENST00000370228.2:c.*1215C>T	ENSP00000359248.1:n.*1215C>T
ENST00000643860.1:c.*1444C>T	ENSP00000494389.1:n.*1444C>T
ENST00000311916.6:c.*865C>T	ENSP00000309595.2:n.*865C>T
ENST00000370228.1:c.*1215C>T	ENSP00000359248.1:n.*1215C>T
NM_001163812.1:c.*1215C>T	NP_001157284.1:n.*1215C>T
NM_001163813.1:c.*865C>T	NP_001157285.1:n.*865C>T
NM_001163814.1:c.*1215C>T	NP_001157286.1:n.*1215C>T
NM_021830.4:c.*865C>T	NP_068602.2:n.*865C>T
XM_011539974.1:c.*865C>T	XP_011538276.1:n.*865C>T
XM_011539975.1:c.*865C>T	XP_011538277.1:n.*865C>T
XM_011539975.2:c.*865C>T	XP_011538277.1:n.*865C>T
XM_017016437.1:c.*865C>T	XP_016871926.1:n.*865C>T
XR_001747142.1:n.3214C>T
XR_001747144.1:n.3196C>T
XR_002956991.1:n.3032C>T
XR_945788.2:n.3076C>T
NM_021830.5:c.*865C>T MANE Select	NP_068602.2:n.*865C>T
NM_001163812.2:c.*1215C>T	NP_001157284.1:n.*1215C>T
NM_001163813.2:c.*865C>T	NP_001157285.1:n.*865C>T
NM_001163814.2:c.*1215C>T	NP_001157286.1:n.*1215C>T
NM_001368275.1:c.*865C>T	NP_001355204.1:n.*865C>T
NR_160738.1:n.3708C>T
NR_160739.1:n.1912C>T
NR_160740.1:n.3570C>T
NR_160741.1:n.3526C>T
NR_160742.1:n.3690C>T