Canonical Allele Identifier: CA440292926
Community Standard Title: NM_001166693.3(AFF1):c.2208G>A (p.Val736=)
Gene: AFF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87115041G>A , CM000666.2:g.87115041G>A GRCh38
NC_000004.11:g.88036193G>A , CM000666.1:g.88036193G>A GRCh37
NC_000004.10:g.88255217G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001166693.3:c.2208G>A MANE Select NP_001160165.1:p.Val736=
ENST00000395146.9:c.2208G>A MANE Select ENSP00000378578.4:p.Val736=
NM_001166693.1:c.2208G>A NP_001160165.1:p.Val736=
NM_001166693.2:c.2208G>A NP_001160165.1:p.Val736=
NM_001313959.1:c.2187G>A NP_001300888.1:p.Val729=
NM_001313959.2:c.2187G>A NP_001300888.1:p.Val729=
NM_001313960.1:c.1101G>A NP_001300889.1:p.Val367=
NM_001313960.2:c.1101G>A NP_001300889.1:p.Val367=
NM_005935.2:c.2187G>A NP_005926.1:p.Val729=
NM_005935.3:c.2187G>A NP_005926.1:p.Val729=
NM_005935.4:c.2187G>A NP_005926.1:p.Val729=
ENST00000307808.10:c.2187G>A ENSP00000305689.6:p.Val729=
ENST00000395146.8:c.2208G>A ENSP00000378578.4:p.Val736=
ENST00000503369.1:n.99G>A
ENST00000544085.5:c.2187G>A ENSP00000440843.2:p.Val729=
ENST00000544085.6:c.2187G>A ENSP00000440843.3:p.Val729=
ENST00000674009.1:c.2208G>A ENSP00000501252.1:p.Val736=
XM_005263007.2:c.2208G>A XP_005263064.1:p.Val736=
XM_005263007.3:c.2208G>A XP_005263064.1:p.Val736=
XM_005263009.2:c.2205G>A XP_005263066.1:p.Val735=
XM_005263009.4:c.2205G>A XP_005263066.1:p.Val735=
XM_005263011.2:c.2202G>A XP_005263068.1:p.Val734=
XM_005263011.3:c.2202G>A XP_005263068.1:p.Val734=
XM_005263013.2:c.2208G>A XP_005263070.1:p.Val736=
XM_005263013.4:c.2208G>A XP_005263070.1:p.Val736=
XM_011531973.1:c.2208G>A XP_011530275.1:p.Val736=
XM_011531973.3:c.2208G>A XP_011530275.1:p.Val736=
XM_017008215.2:c.1101G>A XP_016863704.1:p.Val367=
XM_017008216.1:c.1101G>A XP_016863705.1:p.Val367=