Canonical Allele Identifier: CA378210964

Gene: TWNK

Linked Data

• ClinVar Variation Id: 1938311
• ClinVar RCV Id: RCV002646282
• MyVariant Identifiers: chr10:g.102749620T>C (hg19) ; chr10:g.100989863T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989863T>C , CM000672.2:g.100989863T>C	GRCh38
NC_000010.10:g.102749620T>C , CM000672.1:g.102749620T>C	GRCh37
NC_000010.9:g.102739610T>C	NCBI36
NG_011646.1:g.2653A>G
NG_012624.1:g.7328T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1463T>C MANE Select	ENSP00000309595.2:p.Phe488Ser
ENST00000370228.2:c.1463T>C	ENSP00000359248.1:p.Phe488Ser
ENST00000643860.1:c.1463T>C	ENSP00000494389.1:p.Phe488Ser
ENST00000646226.1:n.278T>C
ENST00000647109.1:c.122T>C
ENST00000650396.1:c.424T>C
ENST00000311916.6:c.1463T>C	ENSP00000309595.2:p.Phe488Ser
ENST00000370228.1:c.1463T>C	ENSP00000359248.1:p.Phe488Ser
ENST00000459764.1:n.306T>C
ENST00000473656.5:n.284T>C
ENST00000476766.5:n.349T>C
NM_001163812.1:c.1463T>C	NP_001157284.1:p.Phe488Ser
NM_001163813.1:c.101T>C	NP_001157285.1:p.Phe34Ser
NM_001163814.1:c.101T>C	NP_001157286.1:p.Phe34Ser
NM_021830.4:c.1463T>C	NP_068602.2:p.Phe488Ser
XM_011539974.1:c.101T>C	XP_011538276.1:p.Phe34Ser
XM_011539975.1:c.101T>C	XP_011538277.1:p.Phe34Ser
XR_945788.1:n.2234T>C
XM_011539975.2:c.101T>C	XP_011538277.1:p.Phe34Ser
XM_017016437.1:c.101T>C	XP_016871926.1:p.Phe34Ser
XR_001747142.1:n.1637T>C
XR_001747144.1:n.1575T>C
XR_002956991.1:n.1575T>C
XR_945788.2:n.1575T>C
NM_021830.5:c.1463T>C MANE Select	NP_068602.2:p.Phe488Ser
NM_001163812.2:c.1463T>C	NP_001157284.1:p.Phe488Ser
NM_001163813.2:c.101T>C	NP_001157285.1:p.Phe34Ser
NM_001163814.2:c.101T>C	NP_001157286.1:p.Phe34Ser
NM_001368275.1:c.101T>C	NP_001355204.1:p.Phe34Ser
NR_160738.1:n.2131T>C
NR_160739.1:n.291T>C
NR_160740.1:n.2069T>C
NR_160741.1:n.2069T>C
NR_160742.1:n.2069T>C