Canonical Allele Identifier: CA519857

Gene: DVL1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1336514C>G , CM000663.2:g.1336514C>G	GRCh38
NC_000001.10:g.1271894C>G , CM000663.1:g.1271894C>G	GRCh37
NC_000001.9:g.1261757C>G	NCBI36
NG_008048.1:g.17599G>C
NG_008048.2:g.17599G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378888.10:c.1716G>C MANE Select	ENSP00000368166.5:p.Gly572=
ENST00000378888.9:c.1716G>C	ENSP00000368166.5:p.Gly572=
ENST00000378891.9:c.1641G>C	ENSP00000368169.5:p.Gly547=
ENST00000610709.2:c.963G>C	ENSP00000480077.1:p.Gly321=
ENST00000632445.1:c.683G>C	ENSP00000488888.1:n.683G>C
NM_004421.2:c.1641G>C	NP_004412.2:p.Gly547=
XM_005244731.2:c.1716G>C	XP_005244788.1:p.Gly572=
XM_005244732.2:c.*29G>C	XP_005244789.1:n.*29G>C
XM_005244733.2:c.*29G>C	XP_005244790.1:n.*29G>C
NM_001330311.1:c.1716G>C	NP_001317240.1:p.Gly572=
XM_005244732.4:c.*29G>C	XP_005244789.1:n.*29G>C
XM_005244733.4:c.*29G>C	XP_005244790.1:n.*29G>C
NM_001330311.2:c.1716G>C MANE Select	NP_001317240.1:p.Gly572=
NM_004421.3:c.1641G>C	NP_004412.2:p.Gly547=