Canonical Allele Identifier: CA519835

Gene: DVL1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1336453G>A , CM000663.2:g.1336453G>A	GRCh38
NC_000001.10:g.1271833G>A , CM000663.1:g.1271833G>A	GRCh37
NC_000001.9:g.1261696G>A	NCBI36
NG_008048.1:g.17660C>T
NG_008048.2:g.17660C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001330311.2:c.1777C>T MANE Select	NP_001317240.1:p.Arg593Trp
ENST00000378888.10:c.1777C>T MANE Select	ENSP00000368166.5:p.Arg593Trp
NM_001330311.1:c.1777C>T	NP_001317240.1:p.Arg593Trp
NM_004421.2:c.1702C>T	NP_004412.2:p.Arg568Trp
NM_004421.3:c.1702C>T	NP_004412.2:p.Arg568Trp
ENST00000378888.9:c.1777C>T	ENSP00000368166.5:p.Arg593Trp
ENST00000378891.9:c.1702C>T	ENSP00000368169.5:p.Arg568Trp
ENST00000610709.2:c.1024C>T	ENSP00000480077.1:p.Arg342Trp
ENST00000632445.1:c.744C>T	ENSP00000488888.1:n.744C>T
XM_005244731.2:c.1777C>T	XP_005244788.1:p.Arg593Trp
XM_005244732.2:c.*90C>T	XP_005244789.1:n.*90C>T
XM_005244732.4:c.*90C>T	XP_005244789.1:n.*90C>T
XM_005244733.2:c.*90C>T	XP_005244790.1:n.*90C>T
XM_005244733.4:c.*90C>T	XP_005244790.1:n.*90C>T