Canonical Allele Identifier: CA320649

Gene: TWNK

Linked Data

• ClinVar Variation Id: 214189
• ClinVar RCV Id: RCV000196225
• dbSNP Id: rs863223924
• MyVariant Identifiers: chr10:g.102750245G>C (hg19) ; chr10:g.100990488G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100990488G>C , CM000672.2:g.100990488G>C	GRCh38
NC_000010.10:g.102750245G>C , CM000672.1:g.102750245G>C	GRCh37
NC_000010.9:g.102740235G>C	NCBI36
NG_011646.1:g.2028C>G
NG_012624.1:g.7953G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000311916.8:c.1537G>C MANE Select	ENSP00000309595.2:p.Val513Leu
ENST00000370228.2:c.1537G>C	ENSP00000359248.1:p.Val513Leu
ENST00000643860.1:c.1537G>C	ENSP00000494389.1:p.Val513Leu
ENST00000646226.1:n.352G>C
ENST00000647109.1:c.196G>C
ENST00000650396.1:c.498G>C
ENST00000311916.6:c.1537G>C	ENSP00000309595.2:p.Val513Leu
ENST00000370228.1:c.1537G>C	ENSP00000359248.1:p.Val513Leu
ENST00000473656.5:n.358G>C
ENST00000476766.5:n.423G>C
NM_001163812.1:c.1537G>C	NP_001157284.1:p.Val513Leu
NM_001163813.1:c.175G>C	NP_001157285.1:p.Val59Leu
NM_001163814.1:c.175G>C	NP_001157286.1:p.Val59Leu
NM_021830.4:c.1537G>C	NP_068602.2:p.Val513Leu
XM_011539974.1:c.175G>C	XP_011538276.1:p.Val59Leu
XM_011539975.1:c.175G>C	XP_011538277.1:p.Val59Leu
XR_945788.1:n.2308G>C
XM_011539975.2:c.175G>C	XP_011538277.1:p.Val59Leu
XM_017016437.1:c.175G>C	XP_016871926.1:p.Val59Leu
XR_001747142.1:n.1711G>C
XR_001747144.1:n.1649G>C
XR_002956991.1:n.1649G>C
XR_945788.2:n.1649G>C
NM_021830.5:c.1537G>C MANE Select	NP_068602.2:p.Val513Leu
NM_001163812.2:c.1537G>C	NP_001157284.1:p.Val513Leu
NM_001163813.2:c.175G>C	NP_001157285.1:p.Val59Leu
NM_001163814.2:c.175G>C	NP_001157286.1:p.Val59Leu
NM_001368275.1:c.175G>C	NP_001355204.1:p.Val59Leu
NR_160738.1:n.2205G>C
NR_160739.1:n.365G>C
NR_160740.1:n.2143G>C
NR_160741.1:n.2143G>C
NR_160742.1:n.2143G>C