Canonical Allele Identifier: CA467070210
Community Standard Title: NM_001395010.1(DAB2IP):c.600G>T (p.Ala200=)
Gene: DAB2IP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.121758981G>T , CM000671.2:g.121758981G>T GRCh38
NC_000009.11:g.124521260G>T , CM000671.1:g.124521260G>T GRCh37
NC_000009.10:g.123561081G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001395010.1:c.600G>T MANE Select NP_001381939.1:p.Ala200=
ENST00000408936.8:c.600G>T MANE Select ENSP00000386183.3:p.Ala200=
NM_032552.3:c.516G>T NP_115941.2:p.Ala172=
NM_032552.4:c.516G>T NP_115941.2:p.Ala172=
NM_138709.2:c.228G>T NP_619723.1:p.Ala76=
ENST00000259371.6:c.516G>T ENSP00000259371.2:p.Ala172=
ENST00000259371.7:c.516G>T ENSP00000259371.2:p.Ala172=
ENST00000309989.1:c.228G>T ENSP00000310827.1:p.Ala76=
ENST00000373782.7:c.327G>T ENSP00000362887.3:p.Ala109=
ENST00000394340.7:c.516G>T ENSP00000377872.3:p.Ala172=
ENST00000408936.7:c.600G>T ENSP00000386183.3:p.Ala200=
ENST00000436835.5:c.228G>T ENSP00000409327.1:p.Ala76=
ENST00000436835.6:c.*34G>T ENSP00000409327.2:n.*34G>T
ENST00000648444.1:c.417G>T ENSP00000497706.1:p.Ala139=
ENST00000699487.1:c.456G>T ENSP00000514398.1:p.Ala152=
XM_005251719.3:c.600G>T XP_005251776.1:p.Ala200=
XM_005251719.4:c.600G>T XP_005251776.1:p.Ala200=
XM_005251721.1:c.516G>T XP_005251778.1:p.Ala172=
XM_005251724.3:c.417G>T XP_005251781.1:p.Ala139=
XM_011518264.1:c.579G>T XP_011516566.1:p.Ala193=
XM_011518264.3:c.579G>T XP_011516566.1:p.Ala193=
XM_011518265.1:c.579G>T XP_011516567.1:p.Ala193=
XM_011518265.3:c.579G>T XP_011516567.1:p.Ala193=
XM_011518266.1:c.579G>T XP_011516568.1:p.Ala193=
XM_011518266.2:c.579G>T XP_011516568.1:p.Ala193=
XM_011518267.1:c.579G>T XP_011516569.1:p.Ala193=
XM_011518267.2:c.579G>T XP_011516569.1:p.Ala193=
XM_011518268.1:c.579G>T XP_011516570.1:p.Ala193=
XM_011518269.1:c.525G>T XP_011516571.1:p.Ala175=
XM_011518270.1:c.228G>T XP_011516572.1:p.Ala76=
XM_011518270.2:c.228G>T XP_011516572.1:p.Ala76=
XM_011518271.1:c.228G>T XP_011516573.1:p.Ala76=
XM_011518271.2:c.228G>T XP_011516573.1:p.Ala76=
XM_017014298.2:c.525G>T XP_016869787.1:p.Ala175=
XM_017014299.1:c.456G>T XP_016869788.1:p.Ala152=
XM_017014300.1:c.228G>T XP_016869789.1:p.Ala76=
XM_024447417.1:c.417G>T XP_024303185.1:p.Ala139=
XM_024447418.1:c.408G>T XP_024303186.1:p.Ala136=