Canonical Allele Identifier: CA340548397

Gene: PATJ

Linked Data

• gnomAD v4: 1-61914598-C-G
• MyVariant Identifiers: chr1:g.62380270C>G (hg19) ; chr1:g.61914598C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.61914598C>G , CM000663.2:g.61914598C>G	GRCh38
NC_000001.10:g.62380270C>G , CM000663.1:g.62380270C>G	GRCh37
NC_000001.9:g.62152858C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642238.2:c.3504C>G MANE Select	ENSP00000494277.1:p.Asn1168Lys
ENST00000316485.11:c.3491-3426C>G	ENSP00000326199.7:n.3491-3426C>G
ENST00000371158.6:c.3504C>G	ENSP00000360200.2:p.Asn1168Lys
ENST00000459752.5:n.3618C>G
ENST00000484562.5:n.3618C>G
ENST00000484937.5:c.1881C>G	ENSP00000433669.1:p.Asn627Lys
ENST00000494842.2:c.40C>G
ENST00000613764.4:c.3381+13139C>G	ENSP00000479041.1:n.3381+13139C>G
ENST00000635023.1:c.*1472C>G	ENSP00000489335.1:n.*1472C>G
ENST00000635214.1:n.3618C>G
NM_176877.2:c.3504C>G	NP_795352.2:p.Asn1168Lys
XM_005270341.2:c.3504C>G	XP_005270398.1:p.Asn1168Lys
XM_005270347.1:c.3504C>G	XP_005270404.1:p.Asn1168Lys
XM_006710278.2:c.3504C>G	XP_006710341.1:p.Asn1168Lys
XM_011540462.1:c.3504C>G	XP_011538764.1:p.Asn1168Lys
XM_011540463.1:c.3504C>G	XP_011538765.1:p.Asn1168Lys
XM_011540464.1:c.3504C>G	XP_011538766.1:p.Asn1168Lys
XM_011540465.1:c.3504C>G	XP_011538767.1:p.Asn1168Lys
XM_011540466.1:c.3504C>G	XP_011538768.1:p.Asn1168Lys
XM_011540467.1:c.3504C>G	XP_011538769.1:p.Asn1168Lys
XM_011540468.1:c.3504C>G	XP_011538770.1:p.Asn1168Lys
XM_011540469.1:c.3504C>G	XP_011538771.1:p.Asn1168Lys
NM_001350145.1:c.3504C>G	NP_001337074.1:p.Asn1168Lys
NM_176877.3:c.3504C>G	NP_795352.2:p.Asn1168Lys
XM_005270347.2:c.3504C>G	XP_005270404.1:p.Asn1168Lys
XM_006710278.4:c.3504C>G	XP_006710341.1:p.Asn1168Lys
XM_011540462.3:c.3504C>G	XP_011538764.1:p.Asn1168Lys
XM_011540463.2:c.3504C>G	XP_011538765.1:p.Asn1168Lys
XM_011540464.3:c.3504C>G	XP_011538766.1:p.Asn1168Lys
XM_011540465.3:c.3504C>G	XP_011538767.1:p.Asn1168Lys
XM_011540466.3:c.3504C>G	XP_011538768.1:p.Asn1168Lys
XM_011540467.3:c.3504C>G	XP_011538769.1:p.Asn1168Lys
XM_011540468.3:c.3504C>G	XP_011538770.1:p.Asn1168Lys
XM_011540469.3:c.3504C>G	XP_011538771.1:p.Asn1168Lys
XM_016999998.2:c.3504C>G	XP_016855487.1:p.Asn1168Lys
XM_016999999.2:c.3504C>G	XP_016855488.1:p.Asn1168Lys
XM_017000000.1:c.2595C>G	XP_016855489.1:p.Asn865Lys
XM_017000001.1:c.669C>G	XP_016855490.1:p.Asn223Lys
XM_024448614.1:c.3504C>G	XP_024304382.1:p.Asn1168Lys
XM_024448642.1:c.3504C>G	XP_024304410.1:p.Asn1168Lys
XR_001736900.2:n.3618C>G
XR_002957157.1:n.3618C>G
NM_001350145.3:c.3504C>G MANE Select	NP_001337074.2:p.Asn1168Lys
NM_176877.5:c.3504C>G	NP_795352.3:p.Asn1168Lys