Canonical Allele Identifier: CA392241721

Gene: PATL2

Linked Data

• MyVariant Identifiers: chr15:g.44961590T>A (hg19) ; chr15:g.44669392T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44669392T>A , CM000677.2:g.44669392T>A	GRCh38
NC_000015.9:g.44961590T>A , CM000677.1:g.44961590T>A	GRCh37
NC_000015.8:g.42748882T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000682850.1:c.952A>T MANE Select	ENSP00000508024.1:p.Ile318Leu
ENST00000434130.6:c.952A>T	ENSP00000416673.1:p.Ile318Leu
ENST00000434130.5:c.952A>T	ENSP00000416673.1:p.Ile318Leu
ENST00000560775.5:c.952A>T	ENSP00000453915.1:p.Ile318Leu
ENST00000560780.1:c.385A>T	ENSP00000453695.1:p.Ile129Leu
NM_001145112.1:c.952A>T	NP_001138584.1:p.Ile318Leu
XM_005254224.2:c.952A>T	XP_005254281.1:p.Ile318Leu
XM_011521336.1:c.952A>T	XP_011519638.1:p.Ile318Leu
XM_011521337.1:c.943A>T	XP_011519639.1:p.Ile315Leu
XM_011521338.1:c.952A>T	XP_011519640.1:p.Ile318Leu
XM_011521339.1:c.952A>T	XP_011519641.1:p.Ile318Leu
XM_011521340.1:c.952A>T	XP_011519642.1:p.Ile318Leu
XM_011521341.1:c.952A>T	XP_011519643.1:p.Ile318Leu
XM_011521342.1:c.730A>T	XP_011519644.1:p.Ile244Leu
XM_011521343.1:c.700A>T	XP_011519645.1:p.Ile234Leu
XM_011521344.1:c.700A>T	XP_011519646.1:p.Ile234Leu
XM_011521345.1:c.691A>T	XP_011519647.1:p.Ile231Leu
XM_011521346.1:c.517A>T	XP_011519648.1:p.Ile173Leu
XM_011521347.1:c.385A>T	XP_011519649.1:p.Ile129Leu
XM_011521348.1:c.385A>T	XP_011519650.1:p.Ile129Leu
NM_001330283.1:c.385A>T	NP_001317212.1:p.Ile129Leu
XM_011521336.2:c.1066A>T	XP_011519638.2:p.Ile356Leu
XM_011521337.2:c.1057A>T	XP_011519639.2:p.Ile353Leu
XM_011521338.3:c.952A>T	XP_011519640.1:p.Ile318Leu
XM_011521339.3:c.952A>T	XP_011519641.1:p.Ile318Leu
XM_011521340.3:c.952A>T	XP_011519642.1:p.Ile318Leu
XM_011521342.2:c.730A>T	XP_011519644.1:p.Ile244Leu
XM_011521343.3:c.700A>T	XP_011519645.1:p.Ile234Leu
XM_011521344.3:c.700A>T	XP_011519646.1:p.Ile234Leu
XM_011521345.3:c.691A>T	XP_011519647.1:p.Ile231Leu
XM_011521346.2:c.631A>T	XP_011519648.2:p.Ile211Leu
XM_017022000.2:c.1066A>T	XP_016877489.1:p.Ile356Leu
XM_017022001.2:c.691A>T	XP_016877490.1:p.Ile231Leu
NM_001145112.2:c.952A>T	NP_001138584.1:p.Ile318Leu
NM_001330283.2:c.385A>T	NP_001317212.1:p.Ile129Leu
NM_001387260.1:c.859A>T	NP_001374189.1:p.Ile287Leu
NM_001387261.1:c.952A>T	NP_001374190.1:p.Ile318Leu
NM_001387262.1:c.952A>T	NP_001374191.1:p.Ile318Leu
NM_001387263.1:c.952A>T MANE Select	NP_001374192.1:p.Ile318Leu
NM_001387264.1:c.859A>T	NP_001374193.1:p.Ile287Leu