Canonical Allele Identifier: CA393522002

Gene: PSTPIP1

Linked Data

• MyVariant Identifiers: chr15:g.77329426A>C (hg19) ; chr15:g.77037085A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77037085A>C , CM000677.2:g.77037085A>C	GRCh38
NC_000015.9:g.77329426A>C , CM000677.1:g.77329426A>C	GRCh37
NC_000015.8:g.75116481A>C	NCBI36
NG_007526.1:g.46962A>C , LRG_172:g.46962A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697622.1:n.2326A>C
ENST00000697623.1:n.2579A>C
ENST00000558012.6:c.1160A>C MANE Select	ENSP00000452746.1:p.Glu387Ala
ENST00000379595.7:c.1151A>C	ENSP00000368914.3:p.Glu384Ala
ENST00000557995.1:n.824A>C
ENST00000558012.5:c.1160A>C	ENSP00000452746.1:p.Glu387Ala
ENST00000558870.1:c.309A>C
ENST00000559295.5:c.1103A>C	ENSP00000452743.1:p.Glu368Ala
ENST00000559785.5:c.*135A>C	ENSP00000452986.1:n.*135A>C
ENST00000560064.1:n.283A>C
ENST00000560223.5:c.*1262A>C	ENSP00000454118.1:n.*1262A>C
NM_003978.3:c.1160A>C , LRG_172t1:c.1160A>C	NP_003969.2:p.Glu387Ala
XM_006720737.2:c.794A>C	XP_006720800.1:p.Glu265Ala
XM_011522163.1:c.1208A>C	XP_011520465.1:p.Glu403Ala
XM_011522164.1:c.1115A>C	XP_011520466.1:p.Glu372Ala
XM_011522165.1:c.1013A>C	XP_011520467.1:p.Glu338Ala
XM_011522168.1:c.1217A>C	XP_011520470.1:p.Glu406Ala
XM_011522170.1:c.602A>C	XP_011520472.1:p.Glu201Ala
XM_011522171.1:c.542A>C	XP_011520473.1:p.Glu181Ala
XM_011522172.1:c.542A>C	XP_011520474.1:p.Glu181Ala
XM_011522173.1:c.542A>C	XP_011520475.1:p.Glu181Ala
XR_931936.1:n.1701A>C
XR_931937.1:n.1644A>C
XR_931938.1:n.1576A>C
XR_931939.1:n.1479A>C
XR_931940.1:n.1300A>C
NM_001321135.1:c.1103A>C	NP_001308064.1:p.Glu368Ala
NM_001321136.1:c.1133A>C	NP_001308065.1:p.Glu378Ala
NM_001321137.1:c.1355A>C	NP_001308066.1:p.Glu452Ala
NM_003978.4:c.1160A>C	NP_003969.2:p.Glu387Ala
NR_135552.1:n.1381A>C
XM_006720737.3:c.794A>C	XP_006720800.1:p.Glu265Ala
XM_011522163.2:c.1208A>C	XP_011520465.1:p.Glu403Ala
XM_011522165.2:c.1013A>C	XP_011520467.1:p.Glu338Ala
XM_011522168.3:c.1217A>C	XP_011520470.1:p.Glu406Ala
XR_931936.2:n.1699A>C
XR_931937.2:n.1642A>C
XR_931938.2:n.1574A>C
XR_931939.2:n.1477A>C
NM_001321135.2:c.1103A>C	NP_001308064.1:p.Glu368Ala
NM_001321136.2:c.1133A>C	NP_001308065.1:p.Glu378Ala
NM_003978.5:c.1160A>C MANE Select	NP_003969.2:p.Glu387Ala
NR_135552.2:n.1340A>C