Canonical Allele Identifier: CA393521068

Gene: PSTPIP1

Linked Data

• gnomAD v4: 15-77032310-G-C
• MyVariant Identifiers: chr15:g.77324651G>C (hg19) ; chr15:g.77032310G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032310G>C , CM000677.2:g.77032310G>C	GRCh38
NC_000015.9:g.77324651G>C , CM000677.1:g.77324651G>C	GRCh37
NC_000015.8:g.75111706G>C	NCBI36
NG_007526.1:g.42187G>C , LRG_172:g.42187G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.1453G>C
ENST00000697623.1:n.2173G>C
ENST00000558012.6:c.754G>C MANE Select	ENSP00000452746.1:p.Val252Leu
ENST00000379595.7:c.754G>C	ENSP00000368914.3:p.Val252Leu
ENST00000557995.1:n.418G>C
ENST00000558012.5:c.754G>C	ENSP00000452746.1:p.Val252Leu
ENST00000559295.5:c.754G>C	ENSP00000452743.1:p.Val252Leu
ENST00000559785.5:c.949G>C	ENSP00000452986.1:p.Val317Leu
ENST00000559856.1:c.673G>C	ENSP00000453382.1:p.Val225Leu
ENST00000560223.5:c.*856G>C	ENSP00000454118.1:n.*856G>C
ENST00000560377.5:n.995G>C
NM_003978.3:c.754G>C , LRG_172t1:c.754G>C	NP_003969.2:p.Val252Leu
XM_006720737.2:c.388G>C	XP_006720800.1:p.Val130Leu
XM_011522163.1:c.811G>C	XP_011520465.1:p.Val271Leu
XM_011522164.1:c.709G>C	XP_011520466.1:p.Val237Leu
XM_011522165.1:c.607G>C	XP_011520467.1:p.Val203Leu
XM_011522166.1:c.811G>C	XP_011520468.1:p.Val271Leu
XM_011522167.1:c.811G>C	XP_011520469.1:p.Val271Leu
XM_011522168.1:c.811G>C	XP_011520470.1:p.Val271Leu
XM_011522169.1:c.798+1032G>C	XP_011520471.1:n.798+1032G>C
XM_011522170.1:c.371+2736G>C	XP_011520472.1:n.371+2736G>C
XM_011522171.1:c.311+2736G>C	XP_011520473.1:n.311+2736G>C
XM_011522172.1:c.311+2736G>C	XP_011520474.1:n.311+2736G>C
XM_011522173.1:c.311+2736G>C	XP_011520475.1:n.311+2736G>C
XR_931936.1:n.1261G>C
XR_931937.1:n.1204G>C
XR_931938.1:n.1261G>C
XR_931939.1:n.1248+1032G>C
XR_931940.1:n.1069+2736G>C
NM_001321135.1:c.754G>C	NP_001308064.1:p.Val252Leu
NM_001321136.1:c.727G>C	NP_001308065.1:p.Val243Leu
NM_001321137.1:c.949G>C	NP_001308066.1:p.Val317Leu
NM_003978.4:c.754G>C	NP_003969.2:p.Val252Leu
NR_135552.1:n.1150+1032G>C
XM_006720737.3:c.388G>C	XP_006720800.1:p.Val130Leu
XM_011522163.2:c.811G>C	XP_011520465.1:p.Val271Leu
XM_011522165.2:c.607G>C	XP_011520467.1:p.Val203Leu
XM_011522166.2:c.811G>C	XP_011520468.1:p.Val271Leu
XM_011522167.2:c.811G>C	XP_011520469.1:p.Val271Leu
XM_011522168.3:c.811G>C	XP_011520470.1:p.Val271Leu
XM_011522169.2:c.798+1032G>C	XP_011520471.1:n.798+1032G>C
XR_931936.2:n.1259G>C
XR_931937.2:n.1202G>C
XR_931938.2:n.1259G>C
XR_931939.2:n.1246+1032G>C
NM_001321135.2:c.754G>C	NP_001308064.1:p.Val252Leu
NM_001321136.2:c.727G>C	NP_001308065.1:p.Val243Leu
NM_003978.5:c.754G>C MANE Select	NP_003969.2:p.Val252Leu
NR_135552.2:n.1109+1032G>C