Canonical Allele Identifier: CA16753451
Community Standard Title: NM_001330311.2(DVL1):c.1454A>G (p.Asn485Ser)
Gene: DVL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1338322T>C , CM000663.2:g.1338322T>C GRCh38
NC_000001.10:g.1273702T>C , CM000663.1:g.1273702T>C GRCh37
NC_000001.9:g.1263565T>C NCBI36
NG_008048.1:g.15791A>G
NG_008048.2:g.15791A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001330311.2:c.1454A>G MANE Select NP_001317240.1:p.Asn485Ser
ENST00000378888.10:c.1454A>G MANE Select ENSP00000368166.5:p.Asn485Ser
NM_001330311.1:c.1454A>G NP_001317240.1:p.Asn485Ser
NM_004421.2:c.1379A>G NP_004412.2:p.Asn460Ser
NM_004421.3:c.1379A>G NP_004412.2:p.Asn460Ser
ENST00000378888.9:c.1454A>G ENSP00000368166.5:p.Asn485Ser
ENST00000378891.9:c.1379A>G ENSP00000368169.5:p.Asn460Ser
ENST00000610709.2:c.701A>G ENSP00000480077.1:p.Asn234Ser
ENST00000631679.1:c.485A>G ENSP00000488181.1:p.Asn162Ser
ENST00000632445.1:c.383A>G ENSP00000488888.1:p.Asn128Ser
XM_005244731.2:c.1454A>G XP_005244788.1:p.Asn485Ser
XM_005244732.2:c.1454A>G XP_005244789.1:p.Asn485Ser
XM_005244732.4:c.1454A>G XP_005244789.1:p.Asn485Ser
XM_005244733.2:c.1379A>G XP_005244790.1:p.Asn460Ser
XM_005244733.4:c.1379A>G XP_005244790.1:p.Asn460Ser