Canonical Allele Identifier: CA7675801
Gene: PSTPIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.77027836C>G , CM000677.2:g.77027836C>G GRCh38
NC_000015.9:g.77320177C>G , CM000677.1:g.77320177C>G GRCh37
NC_000015.8:g.75107232C>G NCBI36
NG_007526.1:g.37713C>G , LRG_172:g.37713C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697622.1:n.41-22C>G
ENST00000697623.1:n.739C>G
ENST00000558012.6:c.355-16C>G MANE Select ENSP00000452746.1:n.355-16C>G
ENST00000379595.7:c.355-16C>G ENSP00000368914.3:n.355-16C>G
ENST00000558012.5:c.355-16C>G ENSP00000452746.1:n.355-16C>G
ENST00000559161.5:c.355-16C>G ENSP00000453372.1:n.355-16C>G
ENST00000559295.5:c.355-16C>G ENSP00000452743.1:n.355-16C>G
ENST00000559750.5:c.391C>G ENSP00000453531.1:p.Leu131Val
ENST00000559785.5:c.550-16C>G ENSP00000452986.1:n.550-16C>G
ENST00000559856.1:c.274-16C>G ENSP00000453382.1:n.274-16C>G
ENST00000559859.5:c.328-16C>G ENSP00000453218.1:n.328-16C>G
ENST00000560223.5:c.*457-16C>G ENSP00000454118.1:n.*457-16C>G
ENST00000560377.5:n.580C>G
ENST00000560796.5:c.*37C>G ENSP00000454127.1:n.*37C>G
ENST00000561315.5:n.112C>G
NM_003978.3:c.355-16C>G , LRG_172t1:c.355-16C>G NP_003969.2:n.355-16C>G
XM_006720737.2:c.-28C>G XP_006720800.1:n.-28C>G
XM_011522163.1:c.412-16C>G XP_011520465.1:n.412-16C>G
XM_011522164.1:c.310-16C>G XP_011520466.1:n.310-16C>G
XM_011522165.1:c.208-16C>G XP_011520467.1:n.208-16C>G
XM_011522166.1:c.412-16C>G XP_011520468.1:n.412-16C>G
XM_011522167.1:c.412-16C>G XP_011520469.1:n.412-16C>G
XM_011522168.1:c.412-16C>G XP_011520470.1:n.412-16C>G
XM_011522169.1:c.412-16C>G XP_011520471.1:n.412-16C>G
XM_011522170.1:c.44C>G XP_011520472.1:p.Pro15Arg
XM_011522171.1:c.-1-16C>G XP_011520473.1:n.-1-16C>G
XM_011522172.1:c.-17C>G XP_011520474.1:n.-17C>G
XM_011522173.1:c.-1-16C>G XP_011520475.1:n.-1-16C>G
XR_931936.1:n.862-16C>G
XR_931937.1:n.805-16C>G
XR_931938.1:n.862-16C>G
XR_931939.1:n.862-16C>G
XR_931940.1:n.862-16C>G
NM_001321135.1:c.355-16C>G NP_001308064.1:n.355-16C>G
NM_001321136.1:c.328-16C>G NP_001308065.1:n.328-16C>G
NM_001321137.1:c.550-16C>G NP_001308066.1:n.550-16C>G
NM_003978.4:c.355-16C>G NP_003969.2:n.355-16C>G
NR_135552.1:n.844-16C>G
XM_006720737.3:c.-28C>G XP_006720800.1:n.-28C>G
XM_011522163.2:c.412-16C>G XP_011520465.1:n.412-16C>G
XM_011522165.2:c.208-16C>G XP_011520467.1:n.208-16C>G
XM_011522166.2:c.412-16C>G XP_011520468.1:n.412-16C>G
XM_011522167.2:c.412-16C>G XP_011520469.1:n.412-16C>G
XM_011522168.3:c.412-16C>G XP_011520470.1:n.412-16C>G
XM_011522169.2:c.412-16C>G XP_011520471.1:n.412-16C>G
XR_931936.2:n.860-16C>G
XR_931937.2:n.803-16C>G
XR_931938.2:n.860-16C>G
XR_931939.2:n.860-16C>G
NM_001321135.2:c.355-16C>G NP_001308064.1:n.355-16C>G
NM_001321136.2:c.328-16C>G NP_001308065.1:n.328-16C>G
NM_003978.5:c.355-16C>G MANE Select NP_003969.2:n.355-16C>G
NR_135552.2:n.803-16C>G