Canonical Allele Identifier: CA996625299

Gene: IZUMO1

Linked Data

• dbSNP Id: rs907173905
• gnomAD v3: 19-48745510-C-G
• gnomAD v4: 19-48745510-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48745510C>G , CM000681.2:g.48745510C>G	GRCh38
NC_000019.9:g.49248767C>G , CM000681.1:g.49248767C>G	GRCh37
NC_000019.8:g.53940579C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332955.7:c.235+115G>C MANE Select	ENSP00000327786.2:n.235+115G>C
ENST00000332955.6:c.235+115G>C	ENSP00000327786.2:n.235+115G>C
ENST00000595517.5:c.168+182G>C	ENSP00000471815.1:n.168+182G>C
ENST00000595937.5:c.235+115G>C	ENSP00000470144.1:n.235+115G>C
ENST00000597553.1:n.671G>C
ENST00000602105.1:c.-104-222G>C	ENSP00000471134.1:n.-104-222G>C
NM_182575.2:c.235+115G>C	NP_872381.2:n.235+115G>C
XM_005258793.3:c.313+115G>C	XP_005258850.1:n.313+115G>C
XM_005258797.3:c.-104-222G>C	XP_005258854.1:n.-104-222G>C
XM_005258798.3:c.-104-222G>C	XP_005258855.1:n.-104-222G>C
XM_011526811.1:c.334+115G>C	XP_011525113.1:n.334+115G>C
XM_011526812.1:c.235+115G>C	XP_011525114.1:n.235+115G>C
XM_011526813.1:c.235+115G>C	XP_011525115.1:n.235+115G>C
XM_011526814.1:c.15G>C	XP_011525116.1:p.Glu5Asp
XM_011526815.1:c.-129G>C	XP_011525117.1:n.-129G>C
XM_011526816.1:c.-104-222G>C	XP_011525118.1:n.-104-222G>C
XM_011526817.1:c.-104-222G>C	XP_011525119.1:n.-104-222G>C
XR_243923.2:n.1248+115G>C
XR_430196.2:n.1248+115G>C
XR_935799.1:n.1248+115G>C
NM_001321864.1:c.-104-222G>C	NP_001308793.1:n.-104-222G>C
NM_001321865.1:c.-325+115G>C	NP_001308794.1:n.-325+115G>C
NR_135832.1:n.241+182G>C
NM_182575.3:c.235+115G>C MANE Select	NP_872381.2:n.235+115G>C