Canonical Allele Identifier: CA2586252343

Gene: IZUMO1

Linked Data

• gnomAD v4: 19-48745478-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48745478T>G , CM000681.2:g.48745478T>G	GRCh38
NC_000019.9:g.49248735T>G , CM000681.1:g.49248735T>G	GRCh37
NC_000019.8:g.53940547T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000332955.7:c.235+147A>C MANE Select	ENSP00000327786.2:n.235+147A>C
ENST00000332955.6:c.235+147A>C	ENSP00000327786.2:n.235+147A>C
ENST00000595517.5:c.169-190A>C	ENSP00000471815.1:n.169-190A>C
ENST00000595937.5:c.235+147A>C	ENSP00000470144.1:n.235+147A>C
ENST00000597553.1:n.703A>C
ENST00000602105.1:c.-104-190A>C	ENSP00000471134.1:n.-104-190A>C
NM_182575.2:c.235+147A>C	NP_872381.2:n.235+147A>C
XM_005258793.3:c.313+147A>C	XP_005258850.1:n.313+147A>C
XM_005258797.3:c.-104-190A>C	XP_005258854.1:n.-104-190A>C
XM_005258798.3:c.-104-190A>C	XP_005258855.1:n.-104-190A>C
XM_011526811.1:c.334+147A>C	XP_011525113.1:n.334+147A>C
XM_011526812.1:c.235+147A>C	XP_011525114.1:n.235+147A>C
XM_011526813.1:c.235+147A>C	XP_011525115.1:n.235+147A>C
XM_011526814.1:c.43+4A>C	XP_011525116.1:n.43+4A>C
XM_011526815.1:c.-105+8A>C	XP_011525117.1:n.-105+8A>C
XM_011526816.1:c.-104-190A>C	XP_011525118.1:n.-104-190A>C
XM_011526817.1:c.-104-190A>C	XP_011525119.1:n.-104-190A>C
XR_243923.2:n.1248+147A>C
XR_430196.2:n.1248+147A>C
XR_935799.1:n.1248+147A>C
NM_001321864.1:c.-104-190A>C	NP_001308793.1:n.-104-190A>C
NM_001321865.1:c.-325+147A>C	NP_001308794.1:n.-325+147A>C
NR_135832.1:n.242-190A>C
NM_182575.3:c.235+147A>C MANE Select	NP_872381.2:n.235+147A>C