Canonical Allele Identifier: CA12187894
Gene: GPANK1 HGNC NCBI
COSMIC:
COSN19692910 (not active)
MyVariant.info:
GRCh38 chr6:g.31662176A>G
GRCh37 chr6:g.31629953A>G
gnomAD v2:
6:31629953 A / G
gnomAD v3:
6:31662176 A / G
gnomAD v4:
chr6-31662176-A-G
Joint Max Group AF 0.54767023 (AFR)
Genomes Max Group AF 0.54671673 (AFR)
Exomes Max Group AF 0.54325969 (AFR)
dbSNP:
7029
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31662176A>G , CM000668.2:g.31662176A>G GRCh38
NC_000006.11:g.31629953A>G , CM000668.1:g.31629953A>G GRCh37
NC_000006.10:g.31737932A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000375896.9:c.*90T>C MANE Select ENSP00000365060.4:n.*90T>C
ENST00000375893.6:c.*90T>C ENSP00000365057.2:n.*90T>C
ENST00000375895.6:c.*90T>C ENSP00000365059.2:n.*90T>C
ENST00000375896.8:c.*90T>C ENSP00000365060.4:n.*90T>C
ENST00000375900.8:c.*90T>C ENSP00000365065.4:n.*90T>C
ENST00000375906.5:c.*90T>C ENSP00000365071.1:n.*90T>C
NM_001199237.1:c.*90T>C NP_001186166.1:n.*90T>C
NM_001199238.1:c.*90T>C NP_001186167.1:n.*90T>C
NM_001199239.1:c.*90T>C NP_001186168.1:n.*90T>C
NM_001199240.1:c.*90T>C NP_001186169.1:n.*90T>C
NM_033177.3:c.*90T>C NP_149417.1:n.*90T>C
XM_005249403.2:c.*90T>C XP_005249460.1:n.*90T>C
XM_006715204.1:c.*90T>C XP_006715267.1:n.*90T>C
XM_011514909.1:c.*90T>C XP_011513211.1:n.*90T>C
XM_011514910.1:c.*90T>C XP_011513212.1:n.*90T>C
XM_005249403.3:c.*90T>C XP_005249460.1:n.*90T>C
XM_024446548.1:c.*90T>C XP_024302316.1:n.*90T>C
XM_024446549.1:c.*90T>C XP_024302317.1:n.*90T>C
NM_033177.4:c.*90T>C MANE Select NP_149417.1:n.*90T>C
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