Canonical Allele Identifier: CA5550283

Gene: MICU1

Linked Data

• ClinVar Variation Id: 279993
• ClinVar RCV Id: RCV000340498 ; RCV001527686
• dbSNP Id: rs375664373
• ExAC: 10:74311044 C / G
• gnomAD v2: 10-74311044-C-G
• gnomAD v3: 10-72551286-C-G
• gnomAD v4: 10-72551286-C-G
• MyVariant Identifiers: chr10:g.74311044C>G (hg19) ; chr10:g.72551286C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.72551286C>G , CM000672.2:g.72551286C>G	GRCh38
NC_000010.10:g.74311044C>G , CM000672.1:g.74311044C>G	GRCh37
NC_000010.9:g.73981050C>G	NCBI36
NG_033179.1:g.79906G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361114.10:c.386G>C MANE Select	ENSP00000354415.5:p.Arg129Pro
ENST00000642044.1:c.386G>C	ENSP00000493232.1:p.Arg129Pro
ENST00000361114.9:c.386G>C	ENSP00000354415.5:p.Arg129Pro
ENST00000398761.8:c.386G>C	ENSP00000381745.5:p.Arg129Pro
ENST00000603011.5:c.284G>C	ENSP00000474192.1:p.Arg95Pro
ENST00000604238.2:c.386G>C	ENSP00000474775.2:p.Arg129Pro
ENST00000635239.1:c.386G>C	ENSP00000489563.1:p.Arg129Pro
NM_001195518.1:c.386G>C	NP_001182447.1:p.Arg129Pro
NM_006077.3:c.386G>C	NP_006068.2:p.Arg129Pro
XM_005269383.1:c.386G>C	XP_005269440.1:p.Arg129Pro
XM_005269384.1:c.386G>C	XP_005269441.1:p.Arg129Pro
XM_011539119.1:c.386G>C	XP_011537421.1:p.Arg129Pro
XR_945585.1:n.473G>C
XR_945586.1:n.473G>C
NM_001363513.1:c.386G>C	NP_001350442.1:p.Arg129Pro
XR_001746993.2:n.474G>C
XR_001746994.2:n.474G>C
XR_945586.2:n.474G>C
NM_001195518.2:c.386G>C MANE Select	NP_001182447.1:p.Arg129Pro
NM_001363513.2:c.386G>C	NP_001350442.1:p.Arg129Pro
NM_006077.4:c.386G>C	NP_006068.2:p.Arg129Pro