Canonical Allele Identifier: CA9139127

Gene: MCOLN1

Linked Data

• dbSNP Id: rs747478121
• ExAC: 19:7594632 CCTGTGACCTTGTCATTGACA / C
• gnomAD v2: 19-7594632-CCTGTGACCTTGTCATTGACA-C
• gnomAD v3: 19-7529746-CCTGTGACCTTGTCATTGACA-C
• gnomAD v4: 19-7529746-CCTGTGACCTTGTCATTGACA-C
• MyVariant Identifiers: chr19:g.7594633_7594652del (hg19) ; chr19:g.7529747_7529766del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529755_7529774del , CM000681.2:g.7529755_7529774del	GRCh38
NC_000019.9:g.7594641_7594660del , CM000681.1:g.7594641_7594660del	GRCh37
NC_000019.8:g.7500641_7500660del	NCBI36
NG_013374.1:g.604_623del
NG_015806.1:g.12146_12165del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1359+43_1359+62del MANE Select	ENSP00000264079.5:n.1359+43_1359+62del
ENST00000264079.10:c.1359+43_1359+62del	ENSP00000264079.5:n.1359+43_1359+62del
ENST00000394321.9:n.1674+43_1674+62del
ENST00000594692.1:n.355+43_355+62del
ENST00000595860.5:n.542+43_542+62del
ENST00000599334.1:c.236+43_236+62del
NM_020533.2:c.1359+43_1359+62del	NP_065394.1:n.1359+43_1359+62del
NM_020533.3:c.1359+43_1359+62del MANE Select	NP_065394.1:n.1359+43_1359+62del