Canonical Allele Identifier: CA340548520

Gene: PATJ

Linked Data

• MyVariant Identifiers: chr1:g.62380325A>C (hg19) ; chr1:g.61914653A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.61914653A>C , CM000663.2:g.61914653A>C	GRCh38
NC_000001.10:g.62380325A>C , CM000663.1:g.62380325A>C	GRCh37
NC_000001.9:g.62152913A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642238.2:c.3559A>C MANE Select	ENSP00000494277.1:p.Lys1187Gln
ENST00000316485.11:c.3491-3371A>C	ENSP00000326199.7:n.3491-3371A>C
ENST00000371158.6:c.3559A>C	ENSP00000360200.2:p.Lys1187Gln
ENST00000459752.5:n.3673A>C
ENST00000484562.5:n.3673A>C
ENST00000484937.5:c.1936A>C	ENSP00000433669.1:p.Lys646Gln
ENST00000490547.2:c.7A>C	ENSP00000489475.1:p.Lys3Gln
ENST00000494842.2:c.95A>C
ENST00000613764.4:c.3381+13194A>C	ENSP00000479041.1:n.3381+13194A>C
ENST00000635023.1:c.*1527A>C	ENSP00000489335.1:n.*1527A>C
ENST00000635214.1:n.3673A>C
NM_176877.2:c.3559A>C	NP_795352.2:p.Lys1187Gln
XM_005270341.2:c.3559A>C	XP_005270398.1:p.Lys1187Gln
XM_005270347.1:c.3559A>C	XP_005270404.1:p.Lys1187Gln
XM_006710278.2:c.3559A>C	XP_006710341.1:p.Lys1187Gln
XM_011540462.1:c.3559A>C	XP_011538764.1:p.Lys1187Gln
XM_011540463.1:c.3559A>C	XP_011538765.1:p.Lys1187Gln
XM_011540464.1:c.3559A>C	XP_011538766.1:p.Lys1187Gln
XM_011540465.1:c.3559A>C	XP_011538767.1:p.Lys1187Gln
XM_011540466.1:c.3559A>C	XP_011538768.1:p.Lys1187Gln
XM_011540467.1:c.3559A>C	XP_011538769.1:p.Lys1187Gln
XM_011540468.1:c.3559A>C	XP_011538770.1:p.Lys1187Gln
XM_011540469.1:c.3559A>C	XP_011538771.1:p.Lys1187Gln
NM_001350145.1:c.3559A>C	NP_001337074.1:p.Lys1187Gln
NM_176877.3:c.3559A>C	NP_795352.2:p.Lys1187Gln
XM_005270347.2:c.3559A>C	XP_005270404.1:p.Lys1187Gln
XM_006710278.4:c.3559A>C	XP_006710341.1:p.Lys1187Gln
XM_011540462.3:c.3559A>C	XP_011538764.1:p.Lys1187Gln
XM_011540463.2:c.3559A>C	XP_011538765.1:p.Lys1187Gln
XM_011540464.3:c.3559A>C	XP_011538766.1:p.Lys1187Gln
XM_011540465.3:c.3559A>C	XP_011538767.1:p.Lys1187Gln
XM_011540466.3:c.3559A>C	XP_011538768.1:p.Lys1187Gln
XM_011540467.3:c.3559A>C	XP_011538769.1:p.Lys1187Gln
XM_011540468.3:c.3559A>C	XP_011538770.1:p.Lys1187Gln
XM_011540469.3:c.3559A>C	XP_011538771.1:p.Lys1187Gln
XM_016999998.2:c.3559A>C	XP_016855487.1:p.Lys1187Gln
XM_016999999.2:c.3559A>C	XP_016855488.1:p.Lys1187Gln
XM_017000000.1:c.2650A>C	XP_016855489.1:p.Lys884Gln
XM_017000001.1:c.724A>C	XP_016855490.1:p.Lys242Gln
XM_024448614.1:c.3559A>C	XP_024304382.1:p.Lys1187Gln
XM_024448642.1:c.3559A>C	XP_024304410.1:p.Lys1187Gln
XR_001736900.2:n.3673A>C
XR_002957157.1:n.3673A>C
NM_001350145.3:c.3559A>C MANE Select	NP_001337074.2:p.Lys1187Gln
NM_176877.5:c.3559A>C	NP_795352.3:p.Lys1187Gln