Canonical Allele Identifier: CA631462565

Gene: MCOLN1

Linked Data

• ClinVar Variation Id: 2915887
• ClinVar RCV Id: RCV003615464
• gnomAD v2: 19-7590051-A-ACCATTATGTAAAATCCATTGTCGCATCCACCTTTATTATCAGTCTCTTCCCCACAACAATATTCATGTGCCTAGACCAAGAAGTTATTATCTC
• gnomAD v3: 19-7525165-A-ACCATTATGTAAAATCCATTGTCGCATCCACCTTTATTATCAGTCTCTTCCCCACAACAATATTCATGTGCCTAGACCAAGAAGTTATTATCTC
• gnomAD v4: 19-7525165-A-ACCATTATGTAAAATCCATTGTCGCATCCACCTTTATTATCAGTCTCTTCCCCACAACAATATTCATGTGCCTAGACCAAGAAGTTATTATCTC
• MyVariant Identifiers: chr19:g.7590051_7590052insCCATTATGTAAAATCCATTGTCGCATCCACCTTTATTATCAGTCTCTTCCCCACAACAATATTCATGTGCCTAGACCAAGAAGTTATTATCTC (hg19) ; chr19:g.7525165_7525166insCCATTATGTAAAATCCATTGTCGCATCCACCTTTATTATCAGTCTCTTCCCCACAACAATATTCATGTGCCTAGACCAAGAAGTTATTATCTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7525165_7525166insCCATTATGTAAAATCCATTGTCGCATCCACCTTTATTATCAGTCTCTTCCCCACAACAATATTCATGTGCCTAGACCAAGAAGTTATTATCTC , CM000681.2:g.7525165_7525166insCCATTATGTAAAATCCATTGTCGCATCCACCTTTATTATCAGTCTCTTCCCCACAACAATATTCATGTGCCTAGACCAAGAAGTTATTATCTC	GRCh38
NC_000019.9:g.7590051_7590052insCCATTATGTAAAATCCATTGTCGCATCCACCTTTATTATCAGTCTCTTCCCCACAACAATATTCATGTGCCTAGACCAAGAAGTTATTATCTC , CM000681.1:g.7590051_7590052insCCATTATGTAAAATCCATTGTCGCATCCACCTTTATTATCAGTCTCTTCCCCACAACAATATTCATGTGCCTAGACCAAGAAGTTATTATCTC	GRCh37
NC_000019.8:g.7496051_7496052insCCATTATGTAAAATCCATTGTCGCATCCACCTTTATTATCAGTCTCTTCCCCACAACAATATTCATGTGCCTAGACCAAGAAGTTATTATCTC	NCBI36
NG_015806.1:g.7556_7557insCCATTATGTAAAATCCATTGTCGCATCCACCTTTATTATCAGTCTCTTCCCCACAACAATATTCATGTGCCTAGACCAAGAAGTTATTATCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.236_237insCCATTATGTAAAATCCATTGTCGCATCCACCTTTATTATCAGTCTCTTCCCCACAACAATATTCATGTGCCTAGACCAAGAAGTTATTATCTC MANE Select	ENSP00000264079.5:p.Gln79delinsHisHisTyrValLysSerIleValAlaSer...
ENST00000264079.10:c.236_237insCCATTATGTAAAATCCATTGTCGCATCCACCTTTATTATCAGTCTCTTCCCCACAACAATATTCATGTGCCTAGACCAAGAAGTTATTATCTC	ENSP00000264079.5:p.Gln79delinsHisHisTyrValLysSerIleValAlaSer...
ENST00000394321.9:n.316_317insCCATTATGTAAAATCCATTGTCGCATCCACCTTTATTATCAGTCTCTTCCCCACAACAATATTCATGTGCCTAGACCAAGAAGTTATTATCTC
ENST00000596390.1:n.352_353insCCATTATGTAAAATCCATTGTCGCATCCACCTTTATTATCAGTCTCTTCCCCACAACAATATTCATGTGCCTAGACCAAGAAGTTATTATCTC
ENST00000601003.1:c.236_237insCCATTATGTAAAATCCATTGTCGCATCCACCTTTATTATCAGTCTCTTCCCCACAACAATATTCATGTGCCTAGACCAAGAAGTTATTATCTC	ENSP00000469074.1:p.Gln79delinsHisHisTyrValLysSerIleValAlaSer...
NM_020533.2:c.236_237insCCATTATGTAAAATCCATTGTCGCATCCACCTTTATTATCAGTCTCTTCCCCACAACAATATTCATGTGCCTAGACCAAGAAGTTATTATCTC	NP_065394.1:p.Gln79delinsHisHisTyrValLysSerIleValAlaSerThrPhe...
NM_020533.3:c.236_237insCCATTATGTAAAATCCATTGTCGCATCCACCTTTATTATCAGTCTCTTCCCCACAACAATATTCATGTGCCTAGACCAAGAAGTTATTATCTC MANE Select	NP_065394.1:p.Gln79delinsHisHisTyrValLysSerIleValAlaSerThrPhe...