Canonical Allele Identifier: CA2586252378

Gene: IZUMO1

Linked Data

• gnomAD v4: 19-48745506-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48745506G>A , CM000681.2:g.48745506G>A	GRCh38
NC_000019.9:g.49248763G>A , CM000681.1:g.49248763G>A	GRCh37
NC_000019.8:g.53940575G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000332955.7:c.235+119C>T MANE Select	ENSP00000327786.2:n.235+119C>T
ENST00000332955.6:c.235+119C>T	ENSP00000327786.2:n.235+119C>T
ENST00000595517.5:c.168+186C>T	ENSP00000471815.1:n.168+186C>T
ENST00000595937.5:c.235+119C>T	ENSP00000470144.1:n.235+119C>T
ENST00000597553.1:n.675C>T
ENST00000602105.1:c.-104-218C>T	ENSP00000471134.1:n.-104-218C>T
NM_182575.2:c.235+119C>T	NP_872381.2:n.235+119C>T
XM_005258793.3:c.313+119C>T	XP_005258850.1:n.313+119C>T
XM_005258797.3:c.-104-218C>T	XP_005258854.1:n.-104-218C>T
XM_005258798.3:c.-104-218C>T	XP_005258855.1:n.-104-218C>T
XM_011526811.1:c.334+119C>T	XP_011525113.1:n.334+119C>T
XM_011526812.1:c.235+119C>T	XP_011525114.1:n.235+119C>T
XM_011526813.1:c.235+119C>T	XP_011525115.1:n.235+119C>T
XM_011526814.1:c.19C>T	XP_011525116.1:p.Gln7Ter
XM_011526815.1:c.-125C>T	XP_011525117.1:n.-125C>T
XM_011526816.1:c.-104-218C>T	XP_011525118.1:n.-104-218C>T
XM_011526817.1:c.-104-218C>T	XP_011525119.1:n.-104-218C>T
XR_243923.2:n.1248+119C>T
XR_430196.2:n.1248+119C>T
XR_935799.1:n.1248+119C>T
NM_001321864.1:c.-104-218C>T	NP_001308793.1:n.-104-218C>T
NM_001321865.1:c.-325+119C>T	NP_001308794.1:n.-325+119C>T
NR_135832.1:n.241+186C>T
NM_182575.3:c.235+119C>T MANE Select	NP_872381.2:n.235+119C>T