Canonical Allele Identifier: CA14708741
Gene: QPCTL HGNC NCBI
SNRPD2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.45692498A>C
GRCh37 chr19:g.46195756A>C
gnomAD v2:
19:46195756 A / C
gnomAD v3:
19:45692498 A / C
gnomAD v4:
chr19-45692498-A-C
Joint Max Group AF 0.04495259 (NFE)
Genomes Max Group AF 0.04425526 (NFE)
Exomes Max Group AF 0.044858 (NFE)
dbSNP:
7245708
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45692498A>C , CM000681.2:g.45692498A>C GRCh38
NC_000019.9:g.46195756A>C , CM000681.1:g.46195756A>C GRCh37
NC_000019.8:g.50887596A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000677024.1:c.-206A>C (QPCTL) ENSP00000503301.1:n.-206A>C
ENST00000677542.1:c.-206A>C (QPCTL) ENSP00000504457.1:n.-206A>C
ENST00000678102.1:c.-206A>C (QPCTL) ENSP00000504441.1:n.-206A>C
ENST00000012049.9:c.-206A>C (QPCTL) ENSP00000012049.4:n.-206A>C
ENST00000587579.1:n.54+18T>G (SNRPD2)
NM_001163377.1:c.-206A>C (QPCTL) NP_001156849.1:n.-206A>C
NM_017659.3:c.-206A>C (QPCTL) NP_060129.2:n.-206A>C
XM_011527047.1:c.-206A>C (QPCTL) XP_011525349.1:n.-206A>C
XM_011527048.1:c.-206A>C (QPCTL) XP_011525350.1:n.-206A>C
XM_011527048.3:c.-206A>C (QPCTL) XP_011525350.1:n.-206A>C
XM_017026900.1:c.-206A>C (QPCTL) XP_016882389.1:n.-206A>C
XR_001753711.1:n.95A>C (QPCTL)
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