Canonical Allele Identifier: CA5550074

Gene: MICU1

Linked Data

• ClinVar Variation Id: 101045
• ClinVar RCV Id: RCV000087303 ; RCV001818255
• dbSNP Id: rs754639936
• ExAC: 10:74167796 C / G
• gnomAD v2: 10-74167796-C-G
• gnomAD v3: 10-72408038-C-G
• gnomAD v4: 10-72408038-C-G
• MyVariant Identifiers: chr10:g.74167796C>G (hg19) ; chr10:g.72408038C>G (hg38)
• PubMed: PMID:24336167

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.72408038C>G , CM000672.2:g.72408038C>G	GRCh38
NC_000010.10:g.74167796C>G , CM000672.1:g.74167796C>G	GRCh37
NC_000010.9:g.73837802C>G	NCBI36
NG_033179.1:g.223154G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361114.10:c.1072-1G>C MANE Select	ENSP00000354415.5:n.1072-1G>C
ENST00000642044.1:c.1090-1G>C	ENSP00000493232.1:n.1090-1G>C
ENST00000361114.9:c.1072-1G>C	ENSP00000354415.5:n.1072-1G>C
ENST00000398761.8:c.1078-1G>C	ENSP00000381745.5:n.1078-1G>C
ENST00000398763.8:c.478-1G>C	ENSP00000381747.4:n.478-1G>C
ENST00000418483.6:c.478-1G>C	ENSP00000402470.2:n.478-1G>C
ENST00000476605.7:c.599-1G>C
ENST00000635239.1:c.1084-1G>C	ENSP00000489563.1:n.1084-1G>C
NM_001195518.1:c.1072-1G>C	NP_001182447.1:n.1072-1G>C
NM_001195519.1:c.478-1G>C	NP_001182448.1:n.478-1G>C
NM_006077.3:c.1078-1G>C	NP_006068.2:n.1078-1G>C
XM_005269383.1:c.1090-1G>C	XP_005269440.1:n.1090-1G>C
XM_005269384.1:c.1084-1G>C	XP_005269441.1:n.1084-1G>C
XM_005269386.1:c.388-1G>C	XP_005269443.1:n.388-1G>C
XM_011539119.1:c.1240-1G>C	XP_011537421.1:n.1240-1G>C
XR_945585.1:n.1327-1G>C
XR_945586.1:n.1159-1G>C
NM_001363513.1:c.1090-1G>C	NP_001350442.1:n.1090-1G>C
XM_005269386.2:c.388-1G>C	XP_005269443.1:n.388-1G>C
XR_001746993.2:n.1328-1G>C
XR_001746994.2:n.1166-1G>C
XR_945586.2:n.1160-1G>C
NM_001195518.2:c.1072-1G>C MANE Select	NP_001182447.1:n.1072-1G>C
NM_001195519.2:c.478-1G>C	NP_001182448.1:n.478-1G>C
NM_001363513.2:c.1090-1G>C	NP_001350442.1:n.1090-1G>C
NM_006077.4:c.1078-1G>C	NP_006068.2:n.1078-1G>C