Canonical Allele Identifier: CA10647293

Gene: RMC1 NPC1

Linked Data

• ClinVar Variation Id: 326239
• ClinVar RCV Id: RCV000285788
• dbSNP Id: rs886053662
• MyVariant Identifiers: chr18:g.21111666T>C (hg19) ; chr18:g.23531702T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23531702T>C , CM000680.2:g.23531702T>C	GRCh38
NC_000018.9:g.21111666T>C , CM000680.1:g.21111666T>C	GRCh37
NC_000018.8:g.19365664T>C	NCBI36
NG_012795.1:g.59916A>G
NG_033119.1:g.33233T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615148.5:c.*18T>C (RMC1)	ENSP00000482573.2:n.*18T>C
ENST00000269221.8:c.1972T>C (RMC1) MANE Select	ENSP00000269221.2:p.Ter658Arg
ENST00000269228.10:c.*500A>G (NPC1) MANE Select	ENSP00000269228.4:n.*500A>G
ENST00000269221.7:c.1972T>C (RMC1)	ENSP00000269221.2:p.Ter658Arg
ENST00000269228.9:c.*500A>G (NPC1)	ENSP00000269228.4:n.*500A>G
ENST00000586150.5:c.509+1653A>G (NPC1)
ENST00000589215.5:c.*1505T>C (RMC1)	ENSP00000467852.1:n.*1505T>C
ENST00000589409.1:n.629T>C (RMC1)
ENST00000590723.5:c.163+1653A>G (NPC1)	ENSP00000464755.1:n.163+1653A>G
ENST00000590868.5:c.1828T>C (RMC1)	ENSP00000467007.1:p.Ter610Arg
ENST00000590870.5:c.*973T>C (RMC1)	ENSP00000464875.1:n.*973T>C
ENST00000591107.6:c.431+1653A>G (NPC1)
ENST00000591367.5:n.641T>C (RMC1)
ENST00000593081.5:n.595T>C (RMC1)
ENST00000593280.2:c.86+1653A>G (NPC1)
ENST00000615148.4:c.*18T>C (RMC1)	ENSP00000482573.1:n.*18T>C
NM_000271.4:c.*500A>G (NPC1)	NP_000262.2:n.*500A>G
NM_001276342.1:c.*18T>C (RMC1)	NP_001263271.1:n.*18T>C
NM_013326.4:c.1972T>C (RMC1)	NP_037458.3:p.Ter658Arg
NR_075075.1:n.1892T>C (RMC1)
NR_075076.1:n.1912T>C (RMC1)
XM_005258277.1:c.3805+1653A>G (NPC1)	XP_005258334.1:n.3805+1653A>G
XM_005258278.3:c.*500A>G (NPC1)	XP_005258335.1:n.*500A>G
XM_005258279.1:c.3754+1653A>G (NPC1)	XP_005258336.1:n.3754+1653A>G
XM_006722479.2:c.3805+1653A>G (NPC1)	XP_006722542.1:n.3805+1653A>G
XM_011525938.1:c.1828T>C (RMC1)	XP_011524240.1:p.Ter610Arg
XM_011525939.1:c.1501T>C (RMC1)	XP_011524241.1:p.Ter501Arg
XM_011526015.1:c.3340+1653A>G (NPC1)	XP_011524317.1:n.3340+1653A>G
XR_935218.1:n.1988T>C (RMC1)
NM_001318707.1:c.1501T>C (RMC1)	NP_001305636.1:p.Ter501Arg
NM_001318708.1:c.*18T>C (RMC1)	NP_001305637.1:n.*18T>C
NM_001318709.1:c.1828T>C (RMC1)	NP_001305638.1:p.Ter610Arg
XM_005258278.5:c.*500A>G (NPC1)	XP_005258335.1:n.*500A>G
XM_005258279.2:c.3754+1653A>G (NPC1)	XP_005258336.1:n.3754+1653A>G
XM_006722479.3:c.3805+1653A>G (NPC1)	XP_006722542.1:n.3805+1653A>G
XM_017025717.1:c.1501T>C (RMC1)	XP_016881206.1:p.Ter501Arg
XM_017025784.1:c.3805+1653A>G (NPC1)	XP_016881273.1:n.3805+1653A>G
XM_017025785.1:c.3805+1653A>G (NPC1)	XP_016881274.1:n.3805+1653A>G
XM_017025786.1:c.3754+1653A>G (NPC1)	XP_016881275.1:n.3754+1653A>G
XM_017025787.1:c.3754+1653A>G (NPC1)	XP_016881276.1:n.3754+1653A>G
XR_935218.2:n.1973T>C (RMC1)
NM_000271.5:c.*500A>G (NPC1) MANE Select	NP_000262.2:n.*500A>G
NM_013326.5:c.1972T>C (RMC1) MANE Select	NP_037458.3:p.Ter658Arg