Canonical Allele Identifier: CA403088272
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7594593G>C (hg19) chr19:g.7529707G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529707G>C , CM000681.2:g.7529707G>C GRCh38
NC_000019.9:g.7594593G>C , CM000681.1:g.7594593G>C GRCh37
NC_000019.8:g.7500593G>C NCBI36
NG_013374.1:g.556G>C
NG_015806.1:g.12098G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1354G>C MANE Select ENSP00000264079.5:p.Val452Leu
ENST00000264079.10:c.1354G>C ENSP00000264079.5:p.Val452Leu
ENST00000394321.9:n.1669G>C
ENST00000594692.1:n.350G>C
ENST00000595860.5:n.537G>C
ENST00000599334.1:c.231G>C
NM_020533.2:c.1354G>C NP_065394.1:p.Val452Leu
NM_020533.3:c.1354G>C MANE Select NP_065394.1:p.Val452Leu
Search 100 bp 5'
Search 100 bp 3'