Canonical Allele Identifier: CA373322093

Gene: PIGO

Linked Data

• dbSNP Id: rs1306481994
• gnomAD v2: 9-35092436-A-G
• gnomAD v3: 9-35092439-A-G
• gnomAD v4: 9-35092439-A-G
• MyVariant Identifiers: chr9:g.35092436A>G (hg19) ; chr9:g.35092439A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35092439A>G , CM000671.2:g.35092439A>G	GRCh38
NC_000009.11:g.35092436A>G , CM000671.1:g.35092436A>G	GRCh37
NC_000009.10:g.35082436A>G	NCBI36
NG_031990.1:g.9163T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361778.7:c.1344+104T>C	ENSP00000354678.2:n.1344+104T>C
ENST00000700254.1:c.1344+104T>C	ENSP00000514892.1:n.1344+104T>C
ENST00000700255.1:c.*628T>C	ENSP00000514893.1:n.*628T>C
ENST00000700256.1:n.1480T>C
ENST00000700257.1:c.1448T>C	ENSP00000514894.1:p.Leu483Pro
ENST00000700259.1:c.1344+104T>C	ENSP00000514895.1:n.1344+104T>C
ENST00000700260.1:c.1164+104T>C	ENSP00000514896.1:n.1164+104T>C
ENST00000700261.1:c.1360+88T>C	ENSP00000514897.1:n.1360+88T>C
ENST00000700262.1:c.1344+104T>C	ENSP00000514898.1:n.1344+104T>C
ENST00000700263.1:c.1324T>C	ENSP00000514899.1:n.1324T>C
ENST00000700264.1:c.1448T>C	ENSP00000514900.1:p.Leu483Pro
ENST00000378617.4:c.1448T>C MANE Select	ENSP00000367880.3:p.Leu483Pro
ENST00000298004.9:c.1344+104T>C	ENSP00000298004.5:n.1344+104T>C
ENST00000361778.6:c.1344+104T>C	ENSP00000354678.2:n.1344+104T>C
ENST00000378617.3:c.1448T>C	ENSP00000367880.3:p.Leu483Pro
ENST00000465745.6:n.2449T>C
ENST00000474436.1:n.2906T>C
NM_001201484.1:c.1344+104T>C	NP_001188413.1:n.1344+104T>C
NM_032634.3:c.1448T>C	NP_116023.2:p.Leu483Pro
NM_152850.3:c.1344+104T>C	NP_690577.2:n.1344+104T>C
XM_005251619.2:c.1448T>C	XP_005251676.1:p.Leu483Pro
XM_011518056.1:c.1448T>C	XP_011516358.1:p.Leu483Pro
XR_242515.1:n.1469T>C
XM_005251619.3:c.1448T>C	XP_005251676.1:p.Leu483Pro
XM_017015222.2:c.1448T>C	XP_016870711.1:p.Leu483Pro
XM_017015223.1:c.1344+104T>C	XP_016870712.1:n.1344+104T>C
XM_017015224.1:c.1344+104T>C	XP_016870713.1:n.1344+104T>C
XR_001746390.1:n.1871T>C
XR_001746391.2:n.1365+104T>C
XR_242515.3:n.1469T>C
NM_032634.4:c.1448T>C MANE Select	NP_116023.2:p.Leu483Pro
NM_001201484.2:c.1344+104T>C	NP_001188413.1:n.1344+104T>C
NM_152850.4:c.1344+104T>C	NP_690577.2:n.1344+104T>C