Canonical Allele Identifier: CA2789232487

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100990589T>C , CM000672.2:g.100990589T>C	GRCh38
NC_000010.10:g.102750346T>C , CM000672.1:g.102750346T>C	GRCh37
NC_000010.9:g.102740336T>C	NCBI36
NG_011646.1:g.1927A>G
NG_012624.1:g.8054T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1592+46T>C MANE Select	ENSP00000309595.2:n.1592+46T>C
ENST00000370228.2:c.1592+46T>C	ENSP00000359248.1:n.1592+46T>C
ENST00000643860.1:c.*42T>C	ENSP00000494389.1:n.*42T>C
ENST00000646226.1:n.407+46T>C
ENST00000647109.1:c.251+46T>C
ENST00000650396.1:c.599T>C
ENST00000311916.6:c.1592+46T>C	ENSP00000309595.2:n.1592+46T>C
ENST00000370228.1:c.1592+46T>C	ENSP00000359248.1:n.1592+46T>C
ENST00000473656.5:n.413+46T>C
ENST00000476766.5:n.478+46T>C
NM_001163812.1:c.1592+46T>C	NP_001157284.1:n.1592+46T>C
NM_001163813.1:c.230+46T>C	NP_001157285.1:n.230+46T>C
NM_001163814.1:c.230+46T>C	NP_001157286.1:n.230+46T>C
NM_021830.4:c.1592+46T>C	NP_068602.2:n.1592+46T>C
XM_011539974.1:c.230+46T>C	XP_011538276.1:n.230+46T>C
XM_011539975.1:c.230+46T>C	XP_011538277.1:n.230+46T>C
XR_945788.1:n.2363+46T>C
XM_011539975.2:c.230+46T>C	XP_011538277.1:n.230+46T>C
XM_017016437.1:c.230+46T>C	XP_016871926.1:n.230+46T>C
XR_001747142.1:n.1812T>C
XR_001747144.1:n.1750T>C
XR_002956991.1:n.1704+46T>C
XR_945788.2:n.1704+46T>C
NM_021830.5:c.1592+46T>C MANE Select	NP_068602.2:n.1592+46T>C
NM_001163812.2:c.1592+46T>C	NP_001157284.1:n.1592+46T>C
NM_001163813.2:c.230+46T>C	NP_001157285.1:n.230+46T>C
NM_001163814.2:c.230+46T>C	NP_001157286.1:n.230+46T>C
NM_001368275.1:c.230+46T>C	NP_001355204.1:n.230+46T>C
NR_160738.1:n.2306T>C
NR_160739.1:n.466T>C
NR_160740.1:n.2198+46T>C
NR_160741.1:n.2198+46T>C
NR_160742.1:n.2244T>C