Canonical Allele Identifier: CA657057402
Gene: MCOLN1 HGNC NCBI

Linked Data

COSMIC: COSN20168380
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533975T>G , CM000681.2:g.7533975T>G GRCh38
NC_000019.9:g.7598861T>G , CM000681.1:g.7598861T>G GRCh37
NC_000019.8:g.7504861T>G NCBI36
NG_013374.1:g.4824T>G
NG_015806.1:g.16366T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*180T>G MANE Select ENSP00000264079.5:n.*180T>G
ENST00000264079.10:c.*180T>G ENSP00000264079.5:n.*180T>G
ENST00000394321.9:n.2238T>G
ENST00000599334.1:c.651T>G
ENST00000601870.1:c.169+107T>G
ENST00000602227.1:n.477T>G
NM_020533.2:c.*180T>G NP_065394.1:n.*180T>G
NM_020533.3:c.*180T>G MANE Select NP_065394.1:n.*180T>G
Search 100 bp 5'
Search 100 bp 3'