Canonical Allele Identifier: CA10649892
Gene: PITPNM3 HGNC NCBI

Linked Data

ClinVar Variation Id: 324700
ClinVar RCV Id: RCV000326869
dbSNP Id: rs74390995
gnomAD v3: 17-6453002-T-C
gnomAD v4: 17-6453002-T-C
MyVariant Identifiers: chr17:g.6356322T>C (hg19) chr17:g.6453002T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6453002T>C , CM000679.2:g.6453002T>C GRCh38
NC_000017.10:g.6356322T>C , CM000679.1:g.6356322T>C GRCh37
NC_000017.9:g.6297046T>C NCBI36
NG_016020.1:g.108556A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262483.13:c.*2336A>G MANE Select ENSP00000262483.8:n.*2336A>G
ENST00000262483.12:c.*2336A>G ENSP00000262483.8:n.*2336A>G
ENST00000421306.7:c.*2336A>G ENSP00000407882.3:n.*2336A>G
NM_001165966.1:c.*2336A>G NP_001159438.1:n.*2336A>G
NM_031220.3:c.*2336A>G NP_112497.2:n.*2336A>G
XM_011524014.1:c.2620-2575A>G XP_011522316.1:n.2620-2575A>G
NM_031220.4:c.*2336A>G MANE Select NP_112497.2:n.*2336A>G
NM_001165966.2:c.*2336A>G NP_001159438.1:n.*2336A>G
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