Canonical Allele Identifier: CA378210961

Gene: TWNK

Linked Data

• dbSNP Id: rs1851721273
• COSMIC: COSM914001
• MyVariant Identifiers: chr10:g.102749619T>C (hg19) ; chr10:g.100989862T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989862T>C , CM000672.2:g.100989862T>C	GRCh38
NC_000010.10:g.102749619T>C , CM000672.1:g.102749619T>C	GRCh37
NC_000010.9:g.102739609T>C	NCBI36
NG_011646.1:g.2654A>G
NG_012624.1:g.7327T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1462T>C MANE Select	ENSP00000309595.2:p.Phe488Leu
ENST00000370228.2:c.1462T>C	ENSP00000359248.1:p.Phe488Leu
ENST00000643860.1:c.1462T>C	ENSP00000494389.1:p.Phe488Leu
ENST00000646226.1:n.277T>C
ENST00000647109.1:c.121T>C
ENST00000650396.1:c.423T>C
ENST00000311916.6:c.1462T>C	ENSP00000309595.2:p.Phe488Leu
ENST00000370228.1:c.1462T>C	ENSP00000359248.1:p.Phe488Leu
ENST00000459764.1:n.305T>C
ENST00000473656.5:n.283T>C
ENST00000476766.5:n.348T>C
NM_001163812.1:c.1462T>C	NP_001157284.1:p.Phe488Leu
NM_001163813.1:c.100T>C	NP_001157285.1:p.Phe34Leu
NM_001163814.1:c.100T>C	NP_001157286.1:p.Phe34Leu
NM_021830.4:c.1462T>C	NP_068602.2:p.Phe488Leu
XM_011539974.1:c.100T>C	XP_011538276.1:p.Phe34Leu
XM_011539975.1:c.100T>C	XP_011538277.1:p.Phe34Leu
XR_945788.1:n.2233T>C
XM_011539975.2:c.100T>C	XP_011538277.1:p.Phe34Leu
XM_017016437.1:c.100T>C	XP_016871926.1:p.Phe34Leu
XR_001747142.1:n.1636T>C
XR_001747144.1:n.1574T>C
XR_002956991.1:n.1574T>C
XR_945788.2:n.1574T>C
NM_021830.5:c.1462T>C MANE Select	NP_068602.2:p.Phe488Leu
NM_001163812.2:c.1462T>C	NP_001157284.1:p.Phe488Leu
NM_001163813.2:c.100T>C	NP_001157285.1:p.Phe34Leu
NM_001163814.2:c.100T>C	NP_001157286.1:p.Phe34Leu
NM_001368275.1:c.100T>C	NP_001355204.1:p.Phe34Leu
NR_160738.1:n.2130T>C
NR_160739.1:n.290T>C
NR_160740.1:n.2068T>C
NR_160741.1:n.2068T>C
NR_160742.1:n.2068T>C