Canonical Allele Identifier: CA403091728

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7533626-C-T
• MyVariant Identifiers: chr19:g.7598512C>T (hg19) ; chr19:g.7533626C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533626C>T , CM000681.2:g.7533626C>T	GRCh38
NC_000019.9:g.7598512C>T , CM000681.1:g.7598512C>T	GRCh37
NC_000019.8:g.7504512C>T	NCBI36
NG_013374.1:g.4475C>T
NG_015806.1:g.16017C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1679C>T MANE Select	ENSP00000264079.5:p.Ala560Val
ENST00000264079.10:c.1679C>T	ENSP00000264079.5:p.Ala560Val
ENST00000394321.9:n.1994C>T
ENST00000599334.1:c.407C>T
ENST00000601870.1:c.32C>T
ENST00000602227.1:n.233C>T
NM_020533.2:c.1679C>T	NP_065394.1:p.Ala560Val
NM_020533.3:c.1679C>T MANE Select	NP_065394.1:p.Ala560Val