Canonical Allele Identifier: CA520548

Gene: DVL1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1340444C>T , CM000663.2:g.1340444C>T	GRCh38
NC_000001.10:g.1275824C>T , CM000663.1:g.1275824C>T	GRCh37
NC_000001.9:g.1265687C>T	NCBI36
NG_008048.1:g.13669G>A
NG_008048.2:g.13669G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001330311.2:c.665G>A MANE Select	NP_001317240.1:p.Arg222Gln
ENST00000378888.10:c.665G>A MANE Select	ENSP00000368166.5:p.Arg222Gln
NM_001330311.1:c.665G>A	NP_001317240.1:p.Arg222Gln
NM_004421.2:c.665G>A	NP_004412.2:p.Arg222Gln
NM_004421.3:c.665G>A	NP_004412.2:p.Arg222Gln
ENST00000378888.9:c.665G>A	ENSP00000368166.5:p.Arg222Gln
ENST00000378891.9:c.665G>A	ENSP00000368169.5:p.Arg222Gln
ENST00000610709.2:c.650+15G>A	ENSP00000480077.1:n.650+15G>A
XM_005244731.2:c.665G>A	XP_005244788.1:p.Arg222Gln
XM_005244732.2:c.665G>A	XP_005244789.1:p.Arg222Gln
XM_005244732.4:c.665G>A	XP_005244789.1:p.Arg222Gln
XM_005244733.2:c.665G>A	XP_005244790.1:p.Arg222Gln
XM_005244733.4:c.665G>A	XP_005244790.1:p.Arg222Gln