Canonical Allele Identifier: CA631319328

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1231120047
• gnomAD v2: 19-7598161-AGGTGCTG-A
• gnomAD v3: 19-7533275-AGGTGCTG-A
• gnomAD v4: 19-7533275-AGGTGCTG-A
• MyVariant Identifiers: chr19:g.7598162_7598168del (hg19) ; chr19:g.7533276_7533282del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533277_7533283del , CM000681.2:g.7533277_7533283del	GRCh38
NC_000019.9:g.7598163_7598169del , CM000681.1:g.7598163_7598169del	GRCh37
NC_000019.8:g.7504163_7504169del	NCBI36
NG_013374.1:g.4126_4132del
NG_015806.1:g.15668_15674del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1576-246_1576-240del MANE Select	ENSP00000264079.5:n.1576-246_1576-240del
ENST00000264079.10:c.1576-246_1576-240del	ENSP00000264079.5:n.1576-246_1576-240del
ENST00000394321.9:n.1891-246_1891-240del
ENST00000599334.1:c.304-246_304-240del
NM_020533.2:c.1576-246_1576-240del	NP_065394.1:n.1576-246_1576-240del
NM_020533.3:c.1576-246_1576-240del MANE Select	NP_065394.1:n.1576-246_1576-240del