Canonical Allele Identifier: CA10634385

Gene: TWNK

Linked Data

• ClinVar Variation Id: 298519
• ClinVar RCV Id: RCV000279376 ; RCV000280396 ; RCV000337820 ; RCV000371492
• dbSNP Id: rs886046639
• gnomAD v2: 10-102754030-T-C
• gnomAD v3: 10-100994273-T-C
• gnomAD v4: 10-100994273-T-C
• MyVariant Identifiers: chr10:g.102754030T>C (hg19) ; chr10:g.100994273T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100994273T>C , CM000672.2:g.100994273T>C	GRCh38
NC_000010.10:g.102754030T>C , CM000672.1:g.102754030T>C	GRCh37
NC_000010.9:g.102744020T>C	NCBI36
NG_012624.1:g.11738T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000311916.8:c.*763T>C MANE Select	ENSP00000309595.2:n.*763T>C
ENST00000370228.2:c.*1113T>C	ENSP00000359248.1:n.*1113T>C
ENST00000643860.1:c.*1342T>C	ENSP00000494389.1:n.*1342T>C
ENST00000650396.1:c.1943T>C
ENST00000311916.6:c.*763T>C	ENSP00000309595.2:n.*763T>C
ENST00000370228.1:c.*1113T>C	ENSP00000359248.1:n.*1113T>C
NM_001163812.1:c.*1113T>C	NP_001157284.1:n.*1113T>C
NM_001163813.1:c.*763T>C	NP_001157285.1:n.*763T>C
NM_001163814.1:c.*1113T>C	NP_001157286.1:n.*1113T>C
NM_021830.4:c.*763T>C	NP_068602.2:n.*763T>C
XM_011539974.1:c.*763T>C	XP_011538276.1:n.*763T>C
XM_011539975.1:c.*763T>C	XP_011538277.1:n.*763T>C
XM_011539975.2:c.*763T>C	XP_011538277.1:n.*763T>C
XM_017016437.1:c.*763T>C	XP_016871926.1:n.*763T>C
XR_001747142.1:n.3112T>C
XR_001747144.1:n.3094T>C
XR_002956991.1:n.2930T>C
XR_945788.2:n.2974T>C
NM_021830.5:c.*763T>C MANE Select	NP_068602.2:n.*763T>C
NM_001163812.2:c.*1113T>C	NP_001157284.1:n.*1113T>C
NM_001163813.2:c.*763T>C	NP_001157285.1:n.*763T>C
NM_001163814.2:c.*1113T>C	NP_001157286.1:n.*1113T>C
NM_001368275.1:c.*763T>C	NP_001355204.1:n.*763T>C
NR_160738.1:n.3606T>C
NR_160739.1:n.1810T>C
NR_160740.1:n.3468T>C
NR_160741.1:n.3424T>C
NR_160742.1:n.3588T>C