Canonical Allele Identifier: CA884203879

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1433452386
• gnomAD v3: 19-7530123-T-G
• gnomAD v4: 19-7530123-T-G
• MyVariant Identifiers: chr19:g.7595009T>G (hg19) ; chr19:g.7530123T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7530123T>G , CM000681.2:g.7530123T>G	GRCh38
NC_000019.9:g.7595009T>G , CM000681.1:g.7595009T>G	GRCh37
NC_000019.8:g.7501009T>G	NCBI36
NG_013374.1:g.972T>G
NG_015806.1:g.12514T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1360-163T>G MANE Select	ENSP00000264079.5:n.1360-163T>G
ENST00000264079.10:c.1360-163T>G	ENSP00000264079.5:n.1360-163T>G
ENST00000394321.9:n.1675-163T>G
ENST00000594692.1:n.356-163T>G
ENST00000595860.5:n.543-163T>G
ENST00000599334.1:c.237-312T>G
NM_020533.2:c.1360-163T>G	NP_065394.1:n.1360-163T>G
NM_020533.3:c.1360-163T>G MANE Select	NP_065394.1:n.1360-163T>G