Canonical Allele Identifier: CA234554

Gene: PITPNM3

Linked Data

• ClinVar Variation Id: 1994
• ClinVar RCV Id: RCV000002071 ; RCV000153697 ; RCV000512878 ; RCV000787861 ; RCV003934792
• dbSNP Id: rs76024428
• ExAC: 17:6371557 C / G
• gnomAD v2: 17-6371557-C-G
• gnomAD v3: 17-6468237-C-G
• gnomAD v4: 17-6468237-C-G
• MyVariant Identifiers: chr17:g.6371557C>G (hg19) ; chr17:g.6468237C>G (hg38)
• PubMed: PMID:8586428 ; PMID:17377520 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6468237C>G , CM000679.2:g.6468237C>G	GRCh38
NC_000017.10:g.6371557C>G , CM000679.1:g.6371557C>G	GRCh37
NC_000017.9:g.6312281C>G	NCBI36
NG_016020.1:g.93321G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262483.13:c.1878G>C MANE Select	ENSP00000262483.8:p.Gln626His
ENST00000262483.12:c.1878G>C	ENSP00000262483.8:p.Gln626His
ENST00000421306.7:c.1770G>C	ENSP00000407882.3:p.Gln590His
ENST00000572795.1:n.4384G>C
ENST00000576664.5:n.627G>C
NM_001165966.1:c.1770G>C	NP_001159438.1:p.Gln590His
NM_031220.3:c.1878G>C	NP_112497.2:p.Gln626His
XM_011524014.1:c.1878G>C	XP_011522316.1:p.Gln626His
XM_011524015.1:c.1878G>C	XP_011522317.1:p.Gln626His
XM_011524016.1:c.1878G>C	XP_011522318.1:p.Gln626His
XM_011524015.3:c.1878G>C	XP_011522317.1:p.Gln626His
XM_011524016.3:c.1878G>C	XP_011522318.1:p.Gln626His
NM_031220.4:c.1878G>C MANE Select	NP_112497.2:p.Gln626His
NM_001165966.2:c.1770G>C	NP_001159438.1:p.Gln590His