Canonical Allele Identifier: CA10650726

Gene: PITPNM3

Linked Data

• ClinVar Variation Id: 324744
• ClinVar RCV Id: RCV000391440
• dbSNP Id: rs375605801
• gnomAD v3: 17-6461568-G-T
• gnomAD v4: 17-6461568-G-T
• MyVariant Identifiers: chr17:g.6364888G>T (hg19) ; chr17:g.6461568G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6461568G>T , CM000679.2:g.6461568G>T	GRCh38
NC_000017.10:g.6364888G>T , CM000679.1:g.6364888G>T	GRCh37
NC_000017.9:g.6305612G>T	NCBI36
NG_016020.1:g.99990C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262483.13:c.2307-12C>A MANE Select	ENSP00000262483.8:n.2307-12C>A
ENST00000262483.12:c.2307-12C>A	ENSP00000262483.8:n.2307-12C>A
ENST00000421306.7:c.2199-12C>A	ENSP00000407882.3:n.2199-12C>A
ENST00000572795.1:n.4813-12C>A
ENST00000575201.2:c.151-12C>A
ENST00000576664.5:n.1056-12C>A
NM_001165966.1:c.2199-12C>A	NP_001159438.1:n.2199-12C>A
NM_031220.3:c.2307-12C>A	NP_112497.2:n.2307-12C>A
XM_011524014.1:c.2307-12C>A	XP_011522316.1:n.2307-12C>A
XM_011524015.1:c.2307-12C>A	XP_011522317.1:n.2307-12C>A
XM_011524016.1:c.*1972C>A	XP_011522318.1:n.*1972C>A
XM_011524015.3:c.2307-12C>A	XP_011522317.1:n.2307-12C>A
XM_011524016.3:c.*1972C>A	XP_011522318.1:n.*1972C>A
NM_031220.4:c.2307-12C>A MANE Select	NP_112497.2:n.2307-12C>A
NM_001165966.2:c.2199-12C>A	NP_001159438.1:n.2199-12C>A