Canonical Allele Identifier: CA491335922
Gene: PSTPIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.77324653G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.77032312G>C , CM000677.2:g.77032312G>C GRCh38
NC_000015.9:g.77324653G>C , CM000677.1:g.77324653G>C GRCh37
NC_000015.8:g.75111708G>C NCBI36
NG_007526.1:g.42189G>C , LRG_172:g.42189G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697622.1:n.1455G>C
ENST00000697623.1:n.2175G>C
ENST00000558012.6:c.756G>C MANE Select ENSP00000452746.1:p.Val252=
ENST00000379595.7:c.756G>C ENSP00000368914.3:p.Val252=
ENST00000557995.1:n.420G>C
ENST00000558012.5:c.756G>C ENSP00000452746.1:p.Val252=
ENST00000559295.5:c.756G>C ENSP00000452743.1:p.Val252=
ENST00000559785.5:c.951G>C ENSP00000452986.1:p.Val317=
ENST00000559856.1:c.675G>C ENSP00000453382.1:p.Val225=
ENST00000560223.5:c.*858G>C ENSP00000454118.1:n.*858G>C
ENST00000560377.5:n.997G>C
NM_003978.3:c.756G>C , LRG_172t1:c.756G>C NP_003969.2:p.Val252=
XM_006720737.2:c.390G>C XP_006720800.1:p.Val130=
XM_011522163.1:c.813G>C XP_011520465.1:p.Val271=
XM_011522164.1:c.711G>C XP_011520466.1:p.Val237=
XM_011522165.1:c.609G>C XP_011520467.1:p.Val203=
XM_011522166.1:c.813G>C XP_011520468.1:p.Val271=
XM_011522167.1:c.813G>C XP_011520469.1:p.Val271=
XM_011522168.1:c.813G>C XP_011520470.1:p.Val271=
XM_011522169.1:c.798+1034G>C XP_011520471.1:n.798+1034G>C
XM_011522170.1:c.371+2738G>C XP_011520472.1:n.371+2738G>C
XM_011522171.1:c.311+2738G>C XP_011520473.1:n.311+2738G>C
XM_011522172.1:c.311+2738G>C XP_011520474.1:n.311+2738G>C
XM_011522173.1:c.311+2738G>C XP_011520475.1:n.311+2738G>C
XR_931936.1:n.1263G>C
XR_931937.1:n.1206G>C
XR_931938.1:n.1263G>C
XR_931939.1:n.1248+1034G>C
XR_931940.1:n.1069+2738G>C
NM_001321135.1:c.756G>C NP_001308064.1:p.Val252=
NM_001321136.1:c.729G>C NP_001308065.1:p.Val243=
NM_001321137.1:c.951G>C NP_001308066.1:p.Val317=
NM_003978.4:c.756G>C NP_003969.2:p.Val252=
NR_135552.1:n.1150+1034G>C
XM_006720737.3:c.390G>C XP_006720800.1:p.Val130=
XM_011522163.2:c.813G>C XP_011520465.1:p.Val271=
XM_011522165.2:c.609G>C XP_011520467.1:p.Val203=
XM_011522166.2:c.813G>C XP_011520468.1:p.Val271=
XM_011522167.2:c.813G>C XP_011520469.1:p.Val271=
XM_011522168.3:c.813G>C XP_011520470.1:p.Val271=
XM_011522169.2:c.798+1034G>C XP_011520471.1:n.798+1034G>C
XR_931936.2:n.1261G>C
XR_931937.2:n.1204G>C
XR_931938.2:n.1261G>C
XR_931939.2:n.1246+1034G>C
NM_001321135.2:c.756G>C NP_001308064.1:p.Val252=
NM_001321136.2:c.729G>C NP_001308065.1:p.Val243=
NM_003978.5:c.756G>C MANE Select NP_003969.2:p.Val252=
NR_135552.2:n.1109+1034G>C