Canonical Allele Identifier: CA10575625

Gene: MICU1

Linked Data

• ClinVar Variation Id: 101046
• ClinVar RCV Id: RCV000087304 ; RCV001573399
• dbSNP Id: rs369915689
• gnomAD v2: 10-74236931-C-T
• gnomAD v3: 10-72477173-C-T
• gnomAD v4: 10-72477173-C-T
• MyVariant Identifiers: chr10:g.74236931C>T (hg19) ; chr10:g.72477173C>T (hg38)
• PubMed: PMID:24336167

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.72477173C>T , CM000672.2:g.72477173C>T	GRCh38
NC_000010.10:g.74236931C>T , CM000672.1:g.74236931C>T	GRCh37
NC_000010.9:g.73906937C>T	NCBI36
NG_033179.1:g.154019G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361114.10:c.735+1G>A MANE Select	ENSP00000354415.5:n.735+1G>A
ENST00000642044.1:c.753+1G>A	ENSP00000493232.1:n.753+1G>A
ENST00000361114.9:c.735+1G>A	ENSP00000354415.5:n.735+1G>A
ENST00000398761.8:c.741+1G>A	ENSP00000381745.5:n.741+1G>A
ENST00000398763.8:c.141+1G>A	ENSP00000381747.4:n.141+1G>A
ENST00000418483.6:c.141+1G>A	ENSP00000402470.2:n.141+1G>A
ENST00000476605.7:c.262+1G>A
ENST00000489666.2:c.141+1G>A	ENSP00000474809.1:n.141+1G>A
ENST00000603011.5:c.634G>A	ENSP00000474192.1:p.Ala212Thr
ENST00000604238.2:c.1134+1G>A	ENSP00000474775.2:n.1134+1G>A
ENST00000635239.1:c.747+1G>A	ENSP00000489563.1:n.747+1G>A
NM_001195518.1:c.735+1G>A	NP_001182447.1:n.735+1G>A
NM_001195519.1:c.141+1G>A	NP_001182448.1:n.141+1G>A
NM_006077.3:c.741+1G>A	NP_006068.2:n.741+1G>A
XM_005269383.1:c.753+1G>A	XP_005269440.1:n.753+1G>A
XM_005269384.1:c.747+1G>A	XP_005269441.1:n.747+1G>A
XM_005269386.1:c.51+1G>A	XP_005269443.1:n.51+1G>A
XM_011539119.1:c.903+1G>A	XP_011537421.1:n.903+1G>A
XR_945585.1:n.990+1G>A
XR_945586.1:n.822+1G>A
NM_001363513.1:c.753+1G>A	NP_001350442.1:n.753+1G>A
XM_005269386.2:c.51+1G>A	XP_005269443.1:n.51+1G>A
XR_001746993.2:n.991+1G>A
XR_001746994.2:n.829+1G>A
XR_945586.2:n.823+1G>A
NM_001195518.2:c.735+1G>A MANE Select	NP_001182447.1:n.735+1G>A
NM_001195519.2:c.141+1G>A	NP_001182448.1:n.141+1G>A
NM_001363513.2:c.753+1G>A	NP_001350442.1:n.753+1G>A
NM_006077.4:c.741+1G>A	NP_006068.2:n.741+1G>A