Canonical Allele Identifier: CA392241748

Gene: PATL2

Linked Data

• MyVariant Identifiers: chr15:g.44961596G>T (hg19) ; chr15:g.44669398G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44669398G>T , CM000677.2:g.44669398G>T	GRCh38
NC_000015.9:g.44961596G>T , CM000677.1:g.44961596G>T	GRCh37
NC_000015.8:g.42748888G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000682850.1:c.946C>A MANE Select	ENSP00000508024.1:p.Leu316Ile
ENST00000434130.6:c.946C>A	ENSP00000416673.1:p.Leu316Ile
ENST00000434130.5:c.946C>A	ENSP00000416673.1:p.Leu316Ile
ENST00000560775.5:c.946C>A	ENSP00000453915.1:p.Leu316Ile
ENST00000560780.1:c.379C>A	ENSP00000453695.1:p.Leu127Ile
NM_001145112.1:c.946C>A	NP_001138584.1:p.Leu316Ile
XM_005254224.2:c.946C>A	XP_005254281.1:p.Leu316Ile
XM_011521336.1:c.946C>A	XP_011519638.1:p.Leu316Ile
XM_011521337.1:c.937C>A	XP_011519639.1:p.Leu313Ile
XM_011521338.1:c.946C>A	XP_011519640.1:p.Leu316Ile
XM_011521339.1:c.946C>A	XP_011519641.1:p.Leu316Ile
XM_011521340.1:c.946C>A	XP_011519642.1:p.Leu316Ile
XM_011521341.1:c.946C>A	XP_011519643.1:p.Leu316Ile
XM_011521342.1:c.724C>A	XP_011519644.1:p.Leu242Ile
XM_011521343.1:c.694C>A	XP_011519645.1:p.Leu232Ile
XM_011521344.1:c.694C>A	XP_011519646.1:p.Leu232Ile
XM_011521345.1:c.685C>A	XP_011519647.1:p.Leu229Ile
XM_011521346.1:c.511C>A	XP_011519648.1:p.Leu171Ile
XM_011521347.1:c.379C>A	XP_011519649.1:p.Leu127Ile
XM_011521348.1:c.379C>A	XP_011519650.1:p.Leu127Ile
NM_001330283.1:c.379C>A	NP_001317212.1:p.Leu127Ile
XM_011521336.2:c.1060C>A	XP_011519638.2:p.Leu354Ile
XM_011521337.2:c.1051C>A	XP_011519639.2:p.Leu351Ile
XM_011521338.3:c.946C>A	XP_011519640.1:p.Leu316Ile
XM_011521339.3:c.946C>A	XP_011519641.1:p.Leu316Ile
XM_011521340.3:c.946C>A	XP_011519642.1:p.Leu316Ile
XM_011521342.2:c.724C>A	XP_011519644.1:p.Leu242Ile
XM_011521343.3:c.694C>A	XP_011519645.1:p.Leu232Ile
XM_011521344.3:c.694C>A	XP_011519646.1:p.Leu232Ile
XM_011521345.3:c.685C>A	XP_011519647.1:p.Leu229Ile
XM_011521346.2:c.625C>A	XP_011519648.2:p.Leu209Ile
XM_017022000.2:c.1060C>A	XP_016877489.1:p.Leu354Ile
XM_017022001.2:c.685C>A	XP_016877490.1:p.Leu229Ile
NM_001145112.2:c.946C>A	NP_001138584.1:p.Leu316Ile
NM_001330283.2:c.379C>A	NP_001317212.1:p.Leu127Ile
NM_001387260.1:c.853C>A	NP_001374189.1:p.Leu285Ile
NM_001387261.1:c.946C>A	NP_001374190.1:p.Leu316Ile
NM_001387262.1:c.946C>A	NP_001374191.1:p.Leu316Ile
NM_001387263.1:c.946C>A MANE Select	NP_001374192.1:p.Leu316Ile
NM_001387264.1:c.853C>A	NP_001374193.1:p.Leu285Ile