Canonical Allele Identifier: CA8329608
Gene: PITPNM3 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.6474609G>A
GRCh37 chr17:g.6377929G>A
gnomAD v2:
17:6377929 G / A
gnomAD v3:
17:6474609 G / A
gnomAD v4:
chr17-6474609-G-A
Joint Max Group AF 0.00009083 (AMR)
Genomes Max Group AF 0.00008873 (AMR)
Exomes Max Group AF 0.0000578 (SAS)
ClinVar Allele:
1126570
ClinVar RCV:
RCV001472540
RCV002488278
ClinVar Variation:
1136760
dbSNP:
775491788
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6474609G>A , CM000679.2:g.6474609G>A GRCh38
NC_000017.10:g.6377929G>A , CM000679.1:g.6377929G>A GRCh37
NC_000017.9:g.6318653G>A NCBI36
NG_016020.1:g.86949C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262483.13:c.1086-5C>T MANE Select ENSP00000262483.8:n.1086-5C>T
ENST00000262483.12:c.1086-5C>T ENSP00000262483.8:n.1086-5C>T
ENST00000421306.7:c.978-5C>T ENSP00000407882.3:n.978-5C>T
ENST00000572795.1:n.3592-5C>T
NM_001165966.1:c.978-5C>T NP_001159438.1:n.978-5C>T
NM_031220.3:c.1086-5C>T NP_112497.2:n.1086-5C>T
XM_011524014.1:c.1086-5C>T XP_011522316.1:n.1086-5C>T
XM_011524015.1:c.1086-5C>T XP_011522317.1:n.1086-5C>T
XM_011524016.1:c.1086-5C>T XP_011522318.1:n.1086-5C>T
XM_011524017.1:c.1086-5C>T XP_011522319.1:n.1086-5C>T
XM_011524015.3:c.1086-5C>T XP_011522317.1:n.1086-5C>T
XM_011524016.3:c.1086-5C>T XP_011522318.1:n.1086-5C>T
XM_011524017.3:c.1086-5C>T XP_011522319.1:n.1086-5C>T
NM_031220.4:c.1086-5C>T MANE Select NP_112497.2:n.1086-5C>T
NM_001165966.2:c.978-5C>T NP_001159438.1:n.978-5C>T
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