Canonical Allele Identifier: CA2261633819

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44960567T= , CM000679.2:g.44960567T= GRCh38
NC_000017.10:g.43037935T= , CM000679.1:g.43037935T= GRCh37
NC_000017.9:g.40393461T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000253407.4:c.598-200A= (C1QL1) MANE Select ENSP00000253407.2:n.598-200A=
ENST00000678938.1:c.-110+2505T= (NMT1) ENSP00000503621.1:n.-110+2505T=
ENST00000253407.3:c.598-200A= (C1QL1) ENSP00000253407.2:n.598-200A=
NM_006688.4:c.598-200A= (C1QL1) NP_006679.1:n.598-200A=
NM_006688.5:c.598-200A= (C1QL1) MANE Select NP_006679.1:n.598-200A=