Canonical Allele Identifier: CA5550108

Gene: MICU1

Linked Data

• ClinVar Variation Id: 517955
• ClinVar RCV Id: RCV001707839
• dbSNP Id: rs201811633
• ExAC: 10:74183142 C / A
• gnomAD v2: 10-74183142-C-A
• gnomAD v3: 10-72423384-C-A
• gnomAD v4: 10-72423384-C-A
• MyVariant Identifiers: chr10:g.74183142C>A (hg19) ; chr10:g.72423384C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.72423384C>A , CM000672.2:g.72423384C>A	GRCh38
NC_000010.10:g.74183142C>A , CM000672.1:g.74183142C>A	GRCh37
NC_000010.9:g.73853148C>A	NCBI36
NG_033179.1:g.207808G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361114.10:c.934-13G>T MANE Select	ENSP00000354415.5:n.934-13G>T
ENST00000642044.1:c.952-13G>T	ENSP00000493232.1:n.952-13G>T
ENST00000361114.9:c.934-13G>T	ENSP00000354415.5:n.934-13G>T
ENST00000398761.8:c.940-13G>T	ENSP00000381745.5:n.940-13G>T
ENST00000398763.8:c.340-13G>T	ENSP00000381747.4:n.340-13G>T
ENST00000418483.6:c.340-13G>T	ENSP00000402470.2:n.340-13G>T
ENST00000476605.7:c.461-13G>T
ENST00000489666.2:c.340-13G>T	ENSP00000474809.1:n.340-13G>T
ENST00000635239.1:c.946-13G>T	ENSP00000489563.1:n.946-13G>T
NM_001195518.1:c.934-13G>T	NP_001182447.1:n.934-13G>T
NM_001195519.1:c.340-13G>T	NP_001182448.1:n.340-13G>T
NM_006077.3:c.940-13G>T	NP_006068.2:n.940-13G>T
XM_005269383.1:c.952-13G>T	XP_005269440.1:n.952-13G>T
XM_005269384.1:c.946-13G>T	XP_005269441.1:n.946-13G>T
XM_005269386.1:c.250-13G>T	XP_005269443.1:n.250-13G>T
XM_011539119.1:c.1102-13G>T	XP_011537421.1:n.1102-13G>T
XR_945585.1:n.1189-13G>T
XR_945586.1:n.1021-13G>T
NM_001363513.1:c.952-13G>T	NP_001350442.1:n.952-13G>T
XM_005269386.2:c.250-13G>T	XP_005269443.1:n.250-13G>T
XR_001746993.2:n.1190-13G>T
XR_001746994.2:n.1028-13G>T
XR_945586.2:n.1022-13G>T
NM_001195518.2:c.934-13G>T MANE Select	NP_001182447.1:n.934-13G>T
NM_001195519.2:c.340-13G>T	NP_001182448.1:n.340-13G>T
NM_001363513.2:c.952-13G>T	NP_001350442.1:n.952-13G>T
NM_006077.4:c.940-13G>T	NP_006068.2:n.940-13G>T