Canonical Allele Identifier: CA491335997
Gene: PSTPIP1 HGNC NCBI

Linked Data

dbSNP Id: rs2076457000
MyVariant Identifiers: chr15:g.77325240C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.77032899C>A , CM000677.2:g.77032899C>A GRCh38
NC_000015.9:g.77325240C>A , CM000677.1:g.77325240C>A GRCh37
NC_000015.8:g.75112295C>A NCBI36
NG_007526.1:g.42776C>A , LRG_172:g.42776C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697622.1:n.2042C>A
ENST00000697623.1:n.2295C>A
ENST00000558012.6:c.876C>A MANE Select ENSP00000452746.1:p.Val292=
ENST00000379595.7:c.876C>A ENSP00000368914.3:p.Val292=
ENST00000557995.1:n.540C>A
ENST00000558012.5:c.876C>A ENSP00000452746.1:p.Val292=
ENST00000558870.1:c.78+505C>A
ENST00000559295.5:c.872+471C>A ENSP00000452743.1:n.872+471C>A
ENST00000559785.5:c.1105C>A ENSP00000452986.1:p.His369Asn
ENST00000560223.5:c.*978C>A ENSP00000454118.1:n.*978C>A
NM_003978.3:c.876C>A , LRG_172t1:c.876C>A NP_003969.2:p.Val292=
XM_006720737.2:c.510C>A XP_006720800.1:p.Val170=
XM_011522163.1:c.933C>A XP_011520465.1:p.Val311=
XM_011522164.1:c.831C>A XP_011520466.1:p.Val277=
XM_011522165.1:c.729C>A XP_011520467.1:p.Val243=
XM_011522166.1:c.967C>A XP_011520468.1:p.His323Asn
XM_011522167.1:c.895+505C>A XP_011520469.1:n.895+505C>A
XM_011522168.1:c.933C>A XP_011520470.1:p.Val311=
XM_011522169.1:c.798+1621C>A XP_011520471.1:n.798+1621C>A
XM_011522170.1:c.372-2609C>A XP_011520472.1:n.372-2609C>A
XM_011522171.1:c.312-2609C>A XP_011520473.1:n.312-2609C>A
XM_011522172.1:c.312-2609C>A XP_011520474.1:n.312-2609C>A
XM_011522173.1:c.312-2609C>A XP_011520475.1:n.312-2609C>A
XR_931936.1:n.1417C>A
XR_931937.1:n.1360C>A
XR_931938.1:n.1345+505C>A
XR_931939.1:n.1248+1621C>A
XR_931940.1:n.1070-2609C>A
NM_001321135.1:c.872+471C>A NP_001308064.1:n.872+471C>A
NM_001321136.1:c.849C>A NP_001308065.1:p.Val283=
NM_001321137.1:c.1071C>A NP_001308066.1:p.Val357=
NM_003978.4:c.876C>A NP_003969.2:p.Val292=
NR_135552.1:n.1150+1621C>A
XM_006720737.3:c.510C>A XP_006720800.1:p.Val170=
XM_011522163.2:c.933C>A XP_011520465.1:p.Val311=
XM_011522165.2:c.729C>A XP_011520467.1:p.Val243=
XM_011522166.2:c.967C>A XP_011520468.1:p.His323Asn
XM_011522167.2:c.895+505C>A XP_011520469.1:n.895+505C>A
XM_011522168.3:c.933C>A XP_011520470.1:p.Val311=
XM_011522169.2:c.798+1621C>A XP_011520471.1:n.798+1621C>A
XR_931936.2:n.1415C>A
XR_931937.2:n.1358C>A
XR_931938.2:n.1343+505C>A
XR_931939.2:n.1246+1621C>A
NM_001321135.2:c.872+471C>A NP_001308064.1:n.872+471C>A
NM_001321136.2:c.849C>A NP_001308065.1:p.Val283=
NM_003978.5:c.876C>A MANE Select NP_003969.2:p.Val292=
NR_135552.2:n.1109+1621C>A