Canonical Allele Identifier: CA5550206

Gene: MICU1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.72508254G>A , CM000672.2:g.72508254G>A	GRCh38
NC_000010.10:g.74268012G>A , CM000672.1:g.74268012G>A	GRCh37
NC_000010.9:g.73938018G>A	NCBI36
NG_033179.1:g.122938C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001195518.2:c.553C>T MANE Select	NP_001182447.1:p.Arg185Ter
ENST00000361114.10:c.553C>T MANE Select	ENSP00000354415.5:p.Arg185Ter
NM_001195518.1:c.553C>T	NP_001182447.1:p.Arg185Ter
NM_001195519.1:c.58+15548C>T	NP_001182448.1:n.58+15548C>T
NM_001195519.2:c.58+15548C>T	NP_001182448.1:n.58+15548C>T
NM_001363513.1:c.571C>T	NP_001350442.1:p.Arg191Ter
NM_001363513.2:c.571C>T	NP_001350442.1:p.Arg191Ter
NM_006077.3:c.559C>T	NP_006068.2:p.Arg187Ter
NM_006077.4:c.559C>T	NP_006068.2:p.Arg187Ter
ENST00000361114.9:c.553C>T	ENSP00000354415.5:p.Arg185Ter
ENST00000398761.8:c.559C>T	ENSP00000381745.5:p.Arg187Ter
ENST00000398763.8:c.-153C>T	ENSP00000381747.4:n.-153C>T
ENST00000418483.6:c.58+15548C>T	ENSP00000402470.2:n.58+15548C>T
ENST00000476605.7:c.80C>T
ENST00000489666.2:c.58+15548C>T	ENSP00000474809.1:n.58+15548C>T
ENST00000603011.5:c.451C>T	ENSP00000474192.1:p.Arg151Ter
ENST00000604238.2:c.952C>T	ENSP00000474775.2:p.Arg318Ter
ENST00000604529.1:n.372C>T
ENST00000635239.1:c.565C>T	ENSP00000489563.1:p.Arg189Ter
ENST00000642044.1:c.571C>T	ENSP00000493232.1:p.Arg191Ter
XM_005269383.1:c.571C>T	XP_005269440.1:p.Arg191Ter
XM_005269384.1:c.565C>T	XP_005269441.1:p.Arg189Ter
XM_005269386.1:c.-132C>T	XP_005269443.1:n.-132C>T
XM_005269386.2:c.-132C>T	XP_005269443.1:n.-132C>T
XM_011539119.1:c.721C>T	XP_011537421.1:p.Arg241Ter
XR_001746993.2:n.809C>T
XR_001746994.2:n.647C>T
XR_945585.1:n.808C>T
XR_945586.1:n.640C>T
XR_945586.2:n.641C>T