Canonical Allele Identifier: CA378211109

Gene: TWNK

Linked Data

• MyVariant Identifiers: chr10:g.102750232T>A (hg19) ; chr10:g.100990475T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100990475T>A , CM000672.2:g.100990475T>A	GRCh38
NC_000010.10:g.102750232T>A , CM000672.1:g.102750232T>A	GRCh37
NC_000010.9:g.102740222T>A	NCBI36
NG_011646.1:g.2041A>T
NG_012624.1:g.7940T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000311916.8:c.1524T>A MANE Select	ENSP00000309595.2:p.Tyr508Ter
ENST00000370228.2:c.1524T>A	ENSP00000359248.1:p.Tyr508Ter
ENST00000643860.1:c.1524T>A	ENSP00000494389.1:p.Tyr508Ter
ENST00000646226.1:n.339T>A
ENST00000647109.1:c.183T>A
ENST00000650396.1:c.485T>A
ENST00000311916.6:c.1524T>A	ENSP00000309595.2:p.Tyr508Ter
ENST00000370228.1:c.1524T>A	ENSP00000359248.1:p.Tyr508Ter
ENST00000473656.5:n.345T>A
ENST00000476766.5:n.410T>A
NM_001163812.1:c.1524T>A	NP_001157284.1:p.Tyr508Ter
NM_001163813.1:c.162T>A	NP_001157285.1:p.Tyr54Ter
NM_001163814.1:c.162T>A	NP_001157286.1:p.Tyr54Ter
NM_021830.4:c.1524T>A	NP_068602.2:p.Tyr508Ter
XM_011539974.1:c.162T>A	XP_011538276.1:p.Tyr54Ter
XM_011539975.1:c.162T>A	XP_011538277.1:p.Tyr54Ter
XR_945788.1:n.2295T>A
XM_011539975.2:c.162T>A	XP_011538277.1:p.Tyr54Ter
XM_017016437.1:c.162T>A	XP_016871926.1:p.Tyr54Ter
XR_001747142.1:n.1698T>A
XR_001747144.1:n.1636T>A
XR_002956991.1:n.1636T>A
XR_945788.2:n.1636T>A
NM_021830.5:c.1524T>A MANE Select	NP_068602.2:p.Tyr508Ter
NM_001163812.2:c.1524T>A	NP_001157284.1:p.Tyr508Ter
NM_001163813.2:c.162T>A	NP_001157285.1:p.Tyr54Ter
NM_001163814.2:c.162T>A	NP_001157286.1:p.Tyr54Ter
NM_001368275.1:c.162T>A	NP_001355204.1:p.Tyr54Ter
NR_160738.1:n.2192T>A
NR_160739.1:n.352T>A
NR_160740.1:n.2130T>A
NR_160741.1:n.2130T>A
NR_160742.1:n.2130T>A