Canonical Allele Identifier: CA397404232

Gene: PITPNM3

Linked Data

• MyVariant Identifiers: chr17:g.6371557C>A (hg19) ; chr17:g.6468237C>A (hg38)

Genomic Alleles

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

Transcript Alleles

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