Canonical Allele Identifier: CA9571760

Gene: DKKL1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49365794T>G , CM000681.2:g.49365794T>G	GRCh38
NC_000019.9:g.49869051T>G , CM000681.1:g.49869051T>G	GRCh37
NC_000019.8:g.54560863T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_014419.4:c.326T>G MANE Select	NP_055234.1:p.Met109Arg
ENST00000221498.7:c.326T>G MANE Select	ENSP00000221498.1:p.Met109Arg
NM_001197301.1:c.324+145T>G	NP_001184230.1:n.324+145T>G
NM_001197301.2:c.324+145T>G	NP_001184230.1:n.324+145T>G
NM_001197302.1:c.101T>G	NP_001184231.1:p.Met34Arg
NM_001197302.2:c.101T>G	NP_001184231.1:p.Met34Arg
NM_014419.3:c.326T>G	NP_055234.1:p.Met109Arg
ENST00000221498.6:c.326T>G	ENSP00000221498.1:p.Met109Arg
ENST00000594268.1:c.-10+3888T>G	ENSP00000469865.1:n.-10+3888T>G
ENST00000596402.1:c.101T>G	ENSP00000470676.1:p.Met34Arg
ENST00000597546.1:c.324+145T>G	ENSP00000472056.1:n.324+145T>G
ENST00000597873.5:c.101T>G	ENSP00000472866.1:p.Met34Arg
ENST00000598682.1:c.100+1040T>G
XM_006723142.2:c.371T>G	XP_006723205.1:p.Met124Arg
XM_006723143.2:c.341T>G	XP_006723206.1:p.Met114Arg
XM_011526724.1:c.395T>G	XP_011525026.1:p.Met132Arg
XM_011526725.1:c.347T>G	XP_011525027.1:p.Met116Arg
XM_011526726.1:c.347T>G	XP_011525028.1:p.Met116Arg
XM_011526726.2:c.347T>G	XP_011525028.1:p.Met116Arg
XM_011526727.1:c.393+145T>G	XP_011525029.1:n.393+145T>G
XM_011526727.2:c.393+145T>G	XP_011525029.1:n.393+145T>G
XM_011526728.1:c.252+1040T>G	XP_011525030.1:n.252+1040T>G
XM_011526728.2:c.252+1040T>G	XP_011525030.1:n.252+1040T>G
XM_011526729.1:c.101T>G	XP_011525031.1:p.Met34Arg
XM_017026593.1:c.101T>G	XP_016882082.1:p.Met34Arg