Canonical Allele Identifier: CA2340050240

Gene: IZUMO1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48745491G= , CM000681.2:g.48745491G=	GRCh38
NC_000019.9:g.49248748G= , CM000681.1:g.49248748G=	GRCh37
NC_000019.8:g.53940560G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332955.7:c.235+134C= MANE Select	ENSP00000327786.2:n.235+134C=
ENST00000332955.6:c.235+134C=	ENSP00000327786.2:n.235+134C=
ENST00000595517.5:c.168+201C=	ENSP00000471815.1:n.168+201C=
ENST00000595937.5:c.235+134C=	ENSP00000470144.1:n.235+134C=
ENST00000597553.1:n.690C=
ENST00000602105.1:c.-104-203C=	ENSP00000471134.1:n.-104-203C=
NM_182575.2:c.235+134C=	NP_872381.2:n.235+134C=
XM_005258793.3:c.313+134C=	XP_005258850.1:n.313+134C=
XM_005258797.3:c.-104-203C=	XP_005258854.1:n.-104-203C=
XM_005258798.3:c.-104-203C=	XP_005258855.1:n.-104-203C=
XM_011526811.1:c.334+134C=	XP_011525113.1:n.334+134C=
XM_011526812.1:c.235+134C=	XP_011525114.1:n.235+134C=
XM_011526813.1:c.235+134C=	XP_011525115.1:n.235+134C=
XM_011526814.1:c.34C=	XP_011525116.1:p.Pro12=
XM_011526815.1:c.-110C=	XP_011525117.1:n.-110C=
XM_011526816.1:c.-104-203C=	XP_011525118.1:n.-104-203C=
XM_011526817.1:c.-104-203C=	XP_011525119.1:n.-104-203C=
XR_243923.2:n.1248+134C=
XR_430196.2:n.1248+134C=
XR_935799.1:n.1248+134C=
NM_001321864.1:c.-104-203C=	NP_001308793.1:n.-104-203C=
NM_001321865.1:c.-325+134C=	NP_001308794.1:n.-325+134C=
NR_135832.1:n.241+201C=
NM_182575.3:c.235+134C= MANE Select	NP_872381.2:n.235+134C=