Canonical Allele Identifier: CA291018759

Linked Data

dbSNP Id: rs777008655

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44960978G>C , CM000679.2:g.44960978G>C GRCh38
NC_000017.10:g.43038346G>C , CM000679.1:g.43038346G>C GRCh37
NC_000017.9:g.40393872G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000253407.4:c.598-611C>G (C1QL1) MANE Select ENSP00000253407.2:n.598-611C>G
ENST00000678938.1:c.-110+2916G>C (NMT1) ENSP00000503621.1:n.-110+2916G>C
ENST00000253407.3:c.598-611C>G (C1QL1) ENSP00000253407.2:n.598-611C>G
NM_006688.4:c.598-611C>G (C1QL1) NP_006679.1:n.598-611C>G
NM_006688.5:c.598-611C>G (C1QL1) MANE Select NP_006679.1:n.598-611C>G