Canonical Allele Identifier: CA337862561
Community Standard Title: NM_001330311.2(DVL1):c.1398G>T (p.Glu466Asp)
Gene: DVL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1338378C>A , CM000663.2:g.1338378C>A GRCh38
NC_000001.10:g.1273758C>A , CM000663.1:g.1273758C>A GRCh37
NC_000001.9:g.1263621C>A NCBI36
NG_008048.1:g.15735G>T
NG_008048.2:g.15735G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001330311.2:c.1398G>T MANE Select NP_001317240.1:p.Glu466Asp
ENST00000378888.10:c.1398G>T MANE Select ENSP00000368166.5:p.Glu466Asp
NM_001330311.1:c.1398G>T NP_001317240.1:p.Glu466Asp
NM_004421.2:c.1323G>T NP_004412.2:p.Glu441Asp
NM_004421.3:c.1323G>T NP_004412.2:p.Glu441Asp
ENST00000378888.9:c.1398G>T ENSP00000368166.5:p.Glu466Asp
ENST00000378891.9:c.1323G>T ENSP00000368169.5:p.Glu441Asp
ENST00000610709.2:c.651-6G>T ENSP00000480077.1:n.651-6G>T
ENST00000631679.1:c.429G>T ENSP00000488181.1:p.Glu143Asp
ENST00000632445.1:c.327G>T ENSP00000488888.1:p.Glu109Asp
ENST00000634054.1:n.784G>T
XM_005244731.2:c.1398G>T XP_005244788.1:p.Glu466Asp
XM_005244732.2:c.1398G>T XP_005244789.1:p.Glu466Asp
XM_005244732.4:c.1398G>T XP_005244789.1:p.Glu466Asp
XM_005244733.2:c.1323G>T XP_005244790.1:p.Glu441Asp
XM_005244733.4:c.1323G>T XP_005244790.1:p.Glu441Asp