Canonical Allele Identifier: CA519747

Gene: DVL1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1336225C>A , CM000663.2:g.1336225C>A	GRCh38
NC_000001.10:g.1271605C>A , CM000663.1:g.1271605C>A	GRCh37
NC_000001.9:g.1261468C>A	NCBI36
NG_008048.1:g.17888G>T
NG_008048.2:g.17888G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001330311.2:c.2005G>T MANE Select	NP_001317240.1:p.Val669Phe
ENST00000378888.10:c.2005G>T MANE Select	ENSP00000368166.5:p.Val669Phe
NM_001330311.1:c.2005G>T	NP_001317240.1:p.Val669Phe
NM_004421.2:c.1930G>T	NP_004412.2:p.Val644Phe
NM_004421.3:c.1930G>T	NP_004412.2:p.Val644Phe
ENST00000378888.9:c.2005G>T	ENSP00000368166.5:p.Val669Phe
ENST00000378891.9:c.1930G>T	ENSP00000368169.5:p.Val644Phe
ENST00000610709.2:c.1252G>T	ENSP00000480077.1:p.Val418Phe
XM_005244731.2:c.2005G>T	XP_005244788.1:p.Val669Phe
XM_005244732.4:c.*318G>T	XP_005244789.1:n.*318G>T
XM_005244733.4:c.*318G>T	XP_005244790.1:n.*318G>T