Canonical Allele Identifier: CA633888575

Gene: IZUMO1

Linked Data

• dbSNP Id: rs1257590229
• gnomAD v2: 19-49248636-G-C
• gnomAD v3: 19-48745379-G-C
• gnomAD v4: 19-48745379-G-C
• MyVariant Identifiers: chr19:g.49248636G>C (hg19) ; chr19:g.48745379G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48745379G>C , CM000681.2:g.48745379G>C	GRCh38
NC_000019.9:g.49248636G>C , CM000681.1:g.49248636G>C	GRCh37
NC_000019.8:g.53940448G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332955.7:c.236-91C>G MANE Select	ENSP00000327786.2:n.236-91C>G
ENST00000332955.6:c.236-91C>G	ENSP00000327786.2:n.236-91C>G
ENST00000595517.5:c.169-91C>G	ENSP00000471815.1:n.169-91C>G
ENST00000595937.5:c.236-91C>G	ENSP00000470144.1:n.236-91C>G
ENST00000597553.1:n.802C>G
ENST00000602105.1:c.-104-91C>G	ENSP00000471134.1:n.-104-91C>G
NM_182575.2:c.236-91C>G	NP_872381.2:n.236-91C>G
XM_005258793.3:c.314-91C>G	XP_005258850.1:n.314-91C>G
XM_005258797.3:c.-104-91C>G	XP_005258854.1:n.-104-91C>G
XM_005258798.3:c.-104-91C>G	XP_005258855.1:n.-104-91C>G
XM_011526811.1:c.335-91C>G	XP_011525113.1:n.335-91C>G
XM_011526812.1:c.236-91C>G	XP_011525114.1:n.236-91C>G
XM_011526813.1:c.236-91C>G	XP_011525115.1:n.236-91C>G
XM_011526814.1:c.44-91C>G	XP_011525116.1:n.44-91C>G
XM_011526815.1:c.-104-91C>G	XP_011525117.1:n.-104-91C>G
XM_011526816.1:c.-104-91C>G	XP_011525118.1:n.-104-91C>G
XM_011526817.1:c.-104-91C>G	XP_011525119.1:n.-104-91C>G
XR_243923.2:n.1249-91C>G
XR_430196.2:n.1249-91C>G
XR_935799.1:n.1249-91C>G
NM_001321864.1:c.-104-91C>G	NP_001308793.1:n.-104-91C>G
NM_001321865.1:c.-324-91C>G	NP_001308794.1:n.-324-91C>G
NR_135832.1:n.242-91C>G
NM_182575.3:c.236-91C>G MANE Select	NP_872381.2:n.236-91C>G