Canonical Allele Identifier: CA340548470

Gene: PATJ

Linked Data

• dbSNP Id: rs1399248906
• gnomAD v2: 1-62380304-C-G
• gnomAD v4: 1-61914632-C-G
• MyVariant Identifiers: chr1:g.62380304C>G (hg19) ; chr1:g.61914632C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.61914632C>G , CM000663.2:g.61914632C>G	GRCh38
NC_000001.10:g.62380304C>G , CM000663.1:g.62380304C>G	GRCh37
NC_000001.9:g.62152892C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000642238.2:c.3538C>G MANE Select	ENSP00000494277.1:p.Gln1180Glu
ENST00000316485.11:c.3491-3392C>G	ENSP00000326199.7:n.3491-3392C>G
ENST00000371158.6:c.3538C>G	ENSP00000360200.2:p.Gln1180Glu
ENST00000459752.5:n.3652C>G
ENST00000484562.5:n.3652C>G
ENST00000484937.5:c.1915C>G	ENSP00000433669.1:p.Gln639Glu
ENST00000494842.2:c.74C>G
ENST00000613764.4:c.3381+13173C>G	ENSP00000479041.1:n.3381+13173C>G
ENST00000635023.1:c.*1506C>G	ENSP00000489335.1:n.*1506C>G
ENST00000635214.1:n.3652C>G
NM_176877.2:c.3538C>G	NP_795352.2:p.Gln1180Glu
XM_005270341.2:c.3538C>G	XP_005270398.1:p.Gln1180Glu
XM_005270347.1:c.3538C>G	XP_005270404.1:p.Gln1180Glu
XM_006710278.2:c.3538C>G	XP_006710341.1:p.Gln1180Glu
XM_011540462.1:c.3538C>G	XP_011538764.1:p.Gln1180Glu
XM_011540463.1:c.3538C>G	XP_011538765.1:p.Gln1180Glu
XM_011540464.1:c.3538C>G	XP_011538766.1:p.Gln1180Glu
XM_011540465.1:c.3538C>G	XP_011538767.1:p.Gln1180Glu
XM_011540466.1:c.3538C>G	XP_011538768.1:p.Gln1180Glu
XM_011540467.1:c.3538C>G	XP_011538769.1:p.Gln1180Glu
XM_011540468.1:c.3538C>G	XP_011538770.1:p.Gln1180Glu
XM_011540469.1:c.3538C>G	XP_011538771.1:p.Gln1180Glu
NM_001350145.1:c.3538C>G	NP_001337074.1:p.Gln1180Glu
NM_176877.3:c.3538C>G	NP_795352.2:p.Gln1180Glu
XM_005270347.2:c.3538C>G	XP_005270404.1:p.Gln1180Glu
XM_006710278.4:c.3538C>G	XP_006710341.1:p.Gln1180Glu
XM_011540462.3:c.3538C>G	XP_011538764.1:p.Gln1180Glu
XM_011540463.2:c.3538C>G	XP_011538765.1:p.Gln1180Glu
XM_011540464.3:c.3538C>G	XP_011538766.1:p.Gln1180Glu
XM_011540465.3:c.3538C>G	XP_011538767.1:p.Gln1180Glu
XM_011540466.3:c.3538C>G	XP_011538768.1:p.Gln1180Glu
XM_011540467.3:c.3538C>G	XP_011538769.1:p.Gln1180Glu
XM_011540468.3:c.3538C>G	XP_011538770.1:p.Gln1180Glu
XM_011540469.3:c.3538C>G	XP_011538771.1:p.Gln1180Glu
XM_016999998.2:c.3538C>G	XP_016855487.1:p.Gln1180Glu
XM_016999999.2:c.3538C>G	XP_016855488.1:p.Gln1180Glu
XM_017000000.1:c.2629C>G	XP_016855489.1:p.Gln877Glu
XM_017000001.1:c.703C>G	XP_016855490.1:p.Gln235Glu
XM_024448614.1:c.3538C>G	XP_024304382.1:p.Gln1180Glu
XM_024448642.1:c.3538C>G	XP_024304410.1:p.Gln1180Glu
XR_001736900.2:n.3652C>G
XR_002957157.1:n.3652C>G
NM_001350145.3:c.3538C>G MANE Select	NP_001337074.2:p.Gln1180Glu
NM_176877.5:c.3538C>G	NP_795352.3:p.Gln1180Glu