Canonical Allele Identifier: CA10646564

Gene: PITPNM3

Linked Data

• ClinVar Variation Id: 324766
• ClinVar RCV Id: RCV000363448
• dbSNP Id: rs886053301
• MyVariant Identifiers: chr17:g.6406833C>A (hg19) ; chr17:g.6503513C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6503513C>A , CM000679.2:g.6503513C>A	GRCh38
NC_000017.10:g.6406833C>A , CM000679.1:g.6406833C>A	GRCh37
NC_000017.9:g.6347557C>A	NCBI36
NG_016020.1:g.58045G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262483.13:c.274+14G>T MANE Select	ENSP00000262483.8:n.274+14G>T
ENST00000262483.12:c.274+14G>T	ENSP00000262483.8:n.274+14G>T
ENST00000421306.7:c.166+14G>T	ENSP00000407882.3:n.166+14G>T
NM_001165966.1:c.166+14G>T	NP_001159438.1:n.166+14G>T
NM_031220.3:c.274+14G>T	NP_112497.2:n.274+14G>T
XM_011524014.1:c.274+14G>T	XP_011522316.1:n.274+14G>T
XM_011524015.1:c.274+14G>T	XP_011522317.1:n.274+14G>T
XM_011524016.1:c.274+14G>T	XP_011522318.1:n.274+14G>T
XM_011524017.1:c.274+14G>T	XP_011522319.1:n.274+14G>T
XM_011524015.3:c.274+14G>T	XP_011522317.1:n.274+14G>T
XM_011524016.3:c.274+14G>T	XP_011522318.1:n.274+14G>T
XM_011524017.3:c.274+14G>T	XP_011522319.1:n.274+14G>T
NM_031220.4:c.274+14G>T MANE Select	NP_112497.2:n.274+14G>T
NM_001165966.2:c.166+14G>T	NP_001159438.1:n.166+14G>T