Canonical Allele Identifier: CA491335976
Gene: PSTPIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.77325204T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.77032863T>C , CM000677.2:g.77032863T>C GRCh38
NC_000015.9:g.77325204T>C , CM000677.1:g.77325204T>C GRCh37
NC_000015.8:g.75112259T>C NCBI36
NG_007526.1:g.42740T>C , LRG_172:g.42740T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697622.1:n.2006T>C
ENST00000697623.1:n.2259T>C
ENST00000558012.6:c.840T>C MANE Select ENSP00000452746.1:p.Ala280=
ENST00000379595.7:c.840T>C ENSP00000368914.3:p.Ala280=
ENST00000557995.1:n.504T>C
ENST00000558012.5:c.840T>C ENSP00000452746.1:p.Ala280=
ENST00000558870.1:c.78+469T>C
ENST00000559295.5:c.872+435T>C ENSP00000452743.1:n.872+435T>C
ENST00000559785.5:c.1069T>C ENSP00000452986.1:p.Ser357Pro
ENST00000560223.5:c.*942T>C ENSP00000454118.1:n.*942T>C
ENST00000560377.5:n.1548T>C
NM_003978.3:c.840T>C , LRG_172t1:c.840T>C NP_003969.2:p.Ala280=
XM_006720737.2:c.474T>C XP_006720800.1:p.Ala158=
XM_011522163.1:c.897T>C XP_011520465.1:p.Ala299=
XM_011522164.1:c.795T>C XP_011520466.1:p.Ala265=
XM_011522165.1:c.693T>C XP_011520467.1:p.Ala231=
XM_011522166.1:c.931T>C XP_011520468.1:p.Ser311Pro
XM_011522167.1:c.895+469T>C XP_011520469.1:n.895+469T>C
XM_011522168.1:c.897T>C XP_011520470.1:p.Ala299=
XM_011522169.1:c.798+1585T>C XP_011520471.1:n.798+1585T>C
XM_011522170.1:c.372-2645T>C XP_011520472.1:n.372-2645T>C
XM_011522171.1:c.312-2645T>C XP_011520473.1:n.312-2645T>C
XM_011522172.1:c.312-2645T>C XP_011520474.1:n.312-2645T>C
XM_011522173.1:c.312-2645T>C XP_011520475.1:n.312-2645T>C
XR_931936.1:n.1381T>C
XR_931937.1:n.1324T>C
XR_931938.1:n.1345+469T>C
XR_931939.1:n.1248+1585T>C
XR_931940.1:n.1070-2645T>C
NM_001321135.1:c.872+435T>C NP_001308064.1:n.872+435T>C
NM_001321136.1:c.813T>C NP_001308065.1:p.Ala271=
NM_001321137.1:c.1035T>C NP_001308066.1:p.Ala345=
NM_003978.4:c.840T>C NP_003969.2:p.Ala280=
NR_135552.1:n.1150+1585T>C
XM_006720737.3:c.474T>C XP_006720800.1:p.Ala158=
XM_011522163.2:c.897T>C XP_011520465.1:p.Ala299=
XM_011522165.2:c.693T>C XP_011520467.1:p.Ala231=
XM_011522166.2:c.931T>C XP_011520468.1:p.Ser311Pro
XM_011522167.2:c.895+469T>C XP_011520469.1:n.895+469T>C
XM_011522168.3:c.897T>C XP_011520470.1:p.Ala299=
XM_011522169.2:c.798+1585T>C XP_011520471.1:n.798+1585T>C
XR_931936.2:n.1379T>C
XR_931937.2:n.1322T>C
XR_931938.2:n.1343+469T>C
XR_931939.2:n.1246+1585T>C
NM_001321135.2:c.872+435T>C NP_001308064.1:n.872+435T>C
NM_001321136.2:c.813T>C NP_001308065.1:p.Ala271=
NM_003978.5:c.840T>C MANE Select NP_003969.2:p.Ala280=
NR_135552.2:n.1109+1585T>C