Canonical Allele Identifier: CA393521998

Gene: PSTPIP1

Linked Data

• MyVariant Identifiers: chr15:g.77329423T>G (hg19) ; chr15:g.77037082T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77037082T>G , CM000677.2:g.77037082T>G	GRCh38
NC_000015.9:g.77329423T>G , CM000677.1:g.77329423T>G	GRCh37
NC_000015.8:g.75116478T>G	NCBI36
NG_007526.1:g.46959T>G , LRG_172:g.46959T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000697622.1:n.2323T>G
ENST00000697623.1:n.2576T>G
ENST00000558012.6:c.1157T>G MANE Select	ENSP00000452746.1:p.Leu386Arg
ENST00000379595.7:c.1148T>G	ENSP00000368914.3:p.Leu383Arg
ENST00000557995.1:n.821T>G
ENST00000558012.5:c.1157T>G	ENSP00000452746.1:p.Leu386Arg
ENST00000558870.1:c.306T>G
ENST00000559295.5:c.1100T>G	ENSP00000452743.1:p.Leu367Arg
ENST00000559785.5:c.*132T>G	ENSP00000452986.1:n.*132T>G
ENST00000560064.1:n.280T>G
ENST00000560223.5:c.*1259T>G	ENSP00000454118.1:n.*1259T>G
NM_003978.3:c.1157T>G , LRG_172t1:c.1157T>G	NP_003969.2:p.Leu386Arg
XM_006720737.2:c.791T>G	XP_006720800.1:p.Leu264Arg
XM_011522163.1:c.1205T>G	XP_011520465.1:p.Leu402Arg
XM_011522164.1:c.1112T>G	XP_011520466.1:p.Leu371Arg
XM_011522165.1:c.1010T>G	XP_011520467.1:p.Leu337Arg
XM_011522168.1:c.1214T>G	XP_011520470.1:p.Leu405Arg
XM_011522170.1:c.599T>G	XP_011520472.1:p.Leu200Arg
XM_011522171.1:c.539T>G	XP_011520473.1:p.Leu180Arg
XM_011522172.1:c.539T>G	XP_011520474.1:p.Leu180Arg
XM_011522173.1:c.539T>G	XP_011520475.1:p.Leu180Arg
XR_931936.1:n.1698T>G
XR_931937.1:n.1641T>G
XR_931938.1:n.1573T>G
XR_931939.1:n.1476T>G
XR_931940.1:n.1297T>G
NM_001321135.1:c.1100T>G	NP_001308064.1:p.Leu367Arg
NM_001321136.1:c.1130T>G	NP_001308065.1:p.Leu377Arg
NM_001321137.1:c.1352T>G	NP_001308066.1:p.Leu451Arg
NM_003978.4:c.1157T>G	NP_003969.2:p.Leu386Arg
NR_135552.1:n.1378T>G
XM_006720737.3:c.791T>G	XP_006720800.1:p.Leu264Arg
XM_011522163.2:c.1205T>G	XP_011520465.1:p.Leu402Arg
XM_011522165.2:c.1010T>G	XP_011520467.1:p.Leu337Arg
XM_011522168.3:c.1214T>G	XP_011520470.1:p.Leu405Arg
XR_931936.2:n.1696T>G
XR_931937.2:n.1639T>G
XR_931938.2:n.1571T>G
XR_931939.2:n.1474T>G
NM_001321135.2:c.1100T>G	NP_001308064.1:p.Leu367Arg
NM_001321136.2:c.1130T>G	NP_001308065.1:p.Leu377Arg
NM_003978.5:c.1157T>G MANE Select	NP_003969.2:p.Leu386Arg
NR_135552.2:n.1337T>G