Canonical Allele Identifier: CA14645666

Gene: IZUMO1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48743609A>G , CM000681.2:g.48743609A>G	GRCh38
NC_000019.9:g.49246866A>G , CM000681.1:g.49246866A>G	GRCh37
NC_000019.8:g.53938678A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332955.7:c.419-84T>C MANE Select	ENSP00000327786.2:n.419-84T>C
ENST00000332955.6:c.419-84T>C	ENSP00000327786.2:n.419-84T>C
ENST00000595517.5:c.352-84T>C	ENSP00000471815.1:n.352-84T>C
ENST00000595937.5:c.419-84T>C	ENSP00000470144.1:n.419-84T>C
ENST00000597553.1:n.1641T>C
NM_182575.2:c.419-84T>C	NP_872381.2:n.419-84T>C
XM_005258793.3:c.497-84T>C	XP_005258850.1:n.497-84T>C
XM_005258797.3:c.80-84T>C	XP_005258854.1:n.80-84T>C
XM_005258798.3:c.80-84T>C	XP_005258855.1:n.80-84T>C
XM_011526811.1:c.517+566T>C	XP_011525113.1:n.517+566T>C
XM_011526812.1:c.419-84T>C	XP_011525114.1:n.419-84T>C
XM_011526813.1:c.419-84T>C	XP_011525115.1:n.419-84T>C
XM_011526814.1:c.227-84T>C	XP_011525116.1:n.227-84T>C
XM_011526815.1:c.80-84T>C	XP_011525117.1:n.80-84T>C
XM_011526816.1:c.80-84T>C	XP_011525118.1:n.80-84T>C
XM_011526817.1:c.80-84T>C	XP_011525119.1:n.80-84T>C
XR_243923.2:n.1432-84T>C
XR_430196.2:n.1432-84T>C
XR_935799.1:n.1432-84T>C
NM_001321864.1:c.80-84T>C	NP_001308793.1:n.80-84T>C
NM_001321865.1:c.-141-84T>C	NP_001308794.1:n.-141-84T>C
NR_135832.1:n.425-84T>C
NM_182575.3:c.419-84T>C MANE Select	NP_872381.2:n.419-84T>C