Canonical Allele Identifier: CA149355
Gene: PITPNM3 HGNC NCBI
COSMIC:
COSM6353703 (not active)
MyVariant.info:
GRCh38 chr17:g.6477223C>G
GRCh37 chr17:g.6380543C>G
gnomAD v2:
17:6380543 C / G
gnomAD v3:
17:6477223 C / G
gnomAD v4:
chr17-6477223-C-G
Joint Max Group AF 0.15901145 (EAS)
Genomes Max Group AF 0.1486525 (EAS)
Exomes Max Group AF 0.15939431 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6477223C>G , CM000679.2:g.6477223C>G GRCh38
NC_000017.10:g.6380543C>G , CM000679.1:g.6380543C>G GRCh37
NC_000017.9:g.6321267C>G NCBI36
NG_016020.1:g.84335G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262483.13:c.901-10G>C MANE Select ENSP00000262483.8:n.901-10G>C
ENST00000262483.12:c.901-10G>C ENSP00000262483.8:n.901-10G>C
ENST00000421306.7:c.793-10G>C ENSP00000407882.3:n.793-10G>C
ENST00000572795.1:n.3407-10G>C
NM_001165966.1:c.793-10G>C NP_001159438.1:n.793-10G>C
NM_031220.3:c.901-10G>C NP_112497.2:n.901-10G>C
XM_011524014.1:c.901-10G>C XP_011522316.1:n.901-10G>C
XM_011524015.1:c.901-10G>C XP_011522317.1:n.901-10G>C
XM_011524016.1:c.901-10G>C XP_011522318.1:n.901-10G>C
XM_011524017.1:c.901-10G>C XP_011522319.1:n.901-10G>C
XM_011524015.3:c.901-10G>C XP_011522317.1:n.901-10G>C
XM_011524016.3:c.901-10G>C XP_011522318.1:n.901-10G>C
XM_011524017.3:c.901-10G>C XP_011522319.1:n.901-10G>C
NM_031220.4:c.901-10G>C MANE Select NP_112497.2:n.901-10G>C
NM_001165966.2:c.793-10G>C NP_001159438.1:n.793-10G>C
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