Canonical Allele Identifier: CA772314227
Gene: C1QL1 HGNC NCBI
NMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1296639493
MyVariant Identifiers: chr17:g.43037934C>A (hg19) chr17:g.44960566C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44960566C>A , CM000679.2:g.44960566C>A GRCh38
NC_000017.10:g.43037934C>A , CM000679.1:g.43037934C>A GRCh37
NC_000017.9:g.40393460C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000253407.4:c.598-199G>T (C1QL1) MANE Select ENSP00000253407.2:n.598-199G>T
ENST00000678938.1:c.-110+2504C>A (NMT1) ENSP00000503621.1:n.-110+2504C>A
ENST00000253407.3:c.598-199G>T (C1QL1) ENSP00000253407.2:n.598-199G>T
NM_006688.4:c.598-199G>T (C1QL1) NP_006679.1:n.598-199G>T
NM_006688.5:c.598-199G>T (C1QL1) MANE Select NP_006679.1:n.598-199G>T
Search 100 bp 5'
Search 100 bp 3'