Canonical Allele Identifier: CA378211121

Gene: TWNK

Linked Data

• dbSNP Id: rs1324171441
• gnomAD v2: 10-102750236-A-G
• gnomAD v4: 10-100990479-A-G
• MyVariant Identifiers: chr10:g.102750236A>G (hg19) ; chr10:g.100990479A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100990479A>G , CM000672.2:g.100990479A>G	GRCh38
NC_000010.10:g.102750236A>G , CM000672.1:g.102750236A>G	GRCh37
NC_000010.9:g.102740226A>G	NCBI36
NG_011646.1:g.2037T>C
NG_012624.1:g.7944A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000311916.8:c.1528A>G MANE Select	ENSP00000309595.2:p.Ile510Val
ENST00000370228.2:c.1528A>G	ENSP00000359248.1:p.Ile510Val
ENST00000643860.1:c.1528A>G	ENSP00000494389.1:p.Ile510Val
ENST00000646226.1:n.343A>G
ENST00000647109.1:c.187A>G
ENST00000650396.1:c.489A>G
ENST00000311916.6:c.1528A>G	ENSP00000309595.2:p.Ile510Val
ENST00000370228.1:c.1528A>G	ENSP00000359248.1:p.Ile510Val
ENST00000473656.5:n.349A>G
ENST00000476766.5:n.414A>G
NM_001163812.1:c.1528A>G	NP_001157284.1:p.Ile510Val
NM_001163813.1:c.166A>G	NP_001157285.1:p.Ile56Val
NM_001163814.1:c.166A>G	NP_001157286.1:p.Ile56Val
NM_021830.4:c.1528A>G	NP_068602.2:p.Ile510Val
XM_011539974.1:c.166A>G	XP_011538276.1:p.Ile56Val
XM_011539975.1:c.166A>G	XP_011538277.1:p.Ile56Val
XR_945788.1:n.2299A>G
XM_011539975.2:c.166A>G	XP_011538277.1:p.Ile56Val
XM_017016437.1:c.166A>G	XP_016871926.1:p.Ile56Val
XR_001747142.1:n.1702A>G
XR_001747144.1:n.1640A>G
XR_002956991.1:n.1640A>G
XR_945788.2:n.1640A>G
NM_021830.5:c.1528A>G MANE Select	NP_068602.2:p.Ile510Val
NM_001163812.2:c.1528A>G	NP_001157284.1:p.Ile510Val
NM_001163813.2:c.166A>G	NP_001157285.1:p.Ile56Val
NM_001163814.2:c.166A>G	NP_001157286.1:p.Ile56Val
NM_001368275.1:c.166A>G	NP_001355204.1:p.Ile56Val
NR_160738.1:n.2196A>G
NR_160739.1:n.356A>G
NR_160740.1:n.2134A>G
NR_160741.1:n.2134A>G
NR_160742.1:n.2134A>G