Canonical Allele Identifier: CA2340050245
Gene: IZUMO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48745502A= , CM000681.2:g.48745502A= GRCh38
NC_000019.9:g.49248759A= , CM000681.1:g.49248759A= GRCh37
NC_000019.8:g.53940571A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000332955.7:c.235+123T= MANE Select ENSP00000327786.2:n.235+123T=
ENST00000332955.6:c.235+123T= ENSP00000327786.2:n.235+123T=
ENST00000595517.5:c.168+190T= ENSP00000471815.1:n.168+190T=
ENST00000595937.5:c.235+123T= ENSP00000470144.1:n.235+123T=
ENST00000597553.1:n.679T=
ENST00000602105.1:c.-104-214T= ENSP00000471134.1:n.-104-214T=
NM_182575.2:c.235+123T= NP_872381.2:n.235+123T=
XM_005258793.3:c.313+123T= XP_005258850.1:n.313+123T=
XM_005258797.3:c.-104-214T= XP_005258854.1:n.-104-214T=
XM_005258798.3:c.-104-214T= XP_005258855.1:n.-104-214T=
XM_011526811.1:c.334+123T= XP_011525113.1:n.334+123T=
XM_011526812.1:c.235+123T= XP_011525114.1:n.235+123T=
XM_011526813.1:c.235+123T= XP_011525115.1:n.235+123T=
XM_011526814.1:c.23T= XP_011525116.1:p.Ile8=
XM_011526815.1:c.-121T= XP_011525117.1:n.-121T=
XM_011526816.1:c.-104-214T= XP_011525118.1:n.-104-214T=
XM_011526817.1:c.-104-214T= XP_011525119.1:n.-104-214T=
XR_243923.2:n.1248+123T=
XR_430196.2:n.1248+123T=
XR_935799.1:n.1248+123T=
NM_001321864.1:c.-104-214T= NP_001308793.1:n.-104-214T=
NM_001321865.1:c.-325+123T= NP_001308794.1:n.-325+123T=
NR_135832.1:n.241+190T=
NM_182575.3:c.235+123T= MANE Select NP_872381.2:n.235+123T=