Canonical Allele Identifier: CA2340050246
Gene: IZUMO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48745503T= , CM000681.2:g.48745503T= GRCh38
NC_000019.9:g.49248760T= , CM000681.1:g.49248760T= GRCh37
NC_000019.8:g.53940572T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000332955.7:c.235+122A= MANE Select ENSP00000327786.2:n.235+122A=
ENST00000332955.6:c.235+122A= ENSP00000327786.2:n.235+122A=
ENST00000595517.5:c.168+189A= ENSP00000471815.1:n.168+189A=
ENST00000595937.5:c.235+122A= ENSP00000470144.1:n.235+122A=
ENST00000597553.1:n.678A=
ENST00000602105.1:c.-104-215A= ENSP00000471134.1:n.-104-215A=
NM_182575.2:c.235+122A= NP_872381.2:n.235+122A=
XM_005258793.3:c.313+122A= XP_005258850.1:n.313+122A=
XM_005258797.3:c.-104-215A= XP_005258854.1:n.-104-215A=
XM_005258798.3:c.-104-215A= XP_005258855.1:n.-104-215A=
XM_011526811.1:c.334+122A= XP_011525113.1:n.334+122A=
XM_011526812.1:c.235+122A= XP_011525114.1:n.235+122A=
XM_011526813.1:c.235+122A= XP_011525115.1:n.235+122A=
XM_011526814.1:c.22A= XP_011525116.1:p.Ile8=
XM_011526815.1:c.-122A= XP_011525117.1:n.-122A=
XM_011526816.1:c.-104-215A= XP_011525118.1:n.-104-215A=
XM_011526817.1:c.-104-215A= XP_011525119.1:n.-104-215A=
XR_243923.2:n.1248+122A=
XR_430196.2:n.1248+122A=
XR_935799.1:n.1248+122A=
NM_001321864.1:c.-104-215A= NP_001308793.1:n.-104-215A=
NM_001321865.1:c.-325+122A= NP_001308794.1:n.-325+122A=
NR_135832.1:n.241+189A=
NM_182575.3:c.235+122A= MANE Select NP_872381.2:n.235+122A=