Canonical Allele Identifier: CA392241737

Gene: PATL2

Linked Data

• MyVariant Identifiers: chr15:g.44961595A>C (hg19) ; chr15:g.44669397A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44669397A>C , CM000677.2:g.44669397A>C	GRCh38
NC_000015.9:g.44961595A>C , CM000677.1:g.44961595A>C	GRCh37
NC_000015.8:g.42748887A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000682850.1:c.947T>G MANE Select	ENSP00000508024.1:p.Leu316Arg
ENST00000434130.6:c.947T>G	ENSP00000416673.1:p.Leu316Arg
ENST00000434130.5:c.947T>G	ENSP00000416673.1:p.Leu316Arg
ENST00000560775.5:c.947T>G	ENSP00000453915.1:p.Leu316Arg
ENST00000560780.1:c.380T>G	ENSP00000453695.1:p.Leu127Arg
NM_001145112.1:c.947T>G	NP_001138584.1:p.Leu316Arg
XM_005254224.2:c.947T>G	XP_005254281.1:p.Leu316Arg
XM_011521336.1:c.947T>G	XP_011519638.1:p.Leu316Arg
XM_011521337.1:c.938T>G	XP_011519639.1:p.Leu313Arg
XM_011521338.1:c.947T>G	XP_011519640.1:p.Leu316Arg
XM_011521339.1:c.947T>G	XP_011519641.1:p.Leu316Arg
XM_011521340.1:c.947T>G	XP_011519642.1:p.Leu316Arg
XM_011521341.1:c.947T>G	XP_011519643.1:p.Leu316Arg
XM_011521342.1:c.725T>G	XP_011519644.1:p.Leu242Arg
XM_011521343.1:c.695T>G	XP_011519645.1:p.Leu232Arg
XM_011521344.1:c.695T>G	XP_011519646.1:p.Leu232Arg
XM_011521345.1:c.686T>G	XP_011519647.1:p.Leu229Arg
XM_011521346.1:c.512T>G	XP_011519648.1:p.Leu171Arg
XM_011521347.1:c.380T>G	XP_011519649.1:p.Leu127Arg
XM_011521348.1:c.380T>G	XP_011519650.1:p.Leu127Arg
NM_001330283.1:c.380T>G	NP_001317212.1:p.Leu127Arg
XM_011521336.2:c.1061T>G	XP_011519638.2:p.Leu354Arg
XM_011521337.2:c.1052T>G	XP_011519639.2:p.Leu351Arg
XM_011521338.3:c.947T>G	XP_011519640.1:p.Leu316Arg
XM_011521339.3:c.947T>G	XP_011519641.1:p.Leu316Arg
XM_011521340.3:c.947T>G	XP_011519642.1:p.Leu316Arg
XM_011521342.2:c.725T>G	XP_011519644.1:p.Leu242Arg
XM_011521343.3:c.695T>G	XP_011519645.1:p.Leu232Arg
XM_011521344.3:c.695T>G	XP_011519646.1:p.Leu232Arg
XM_011521345.3:c.686T>G	XP_011519647.1:p.Leu229Arg
XM_011521346.2:c.626T>G	XP_011519648.2:p.Leu209Arg
XM_017022000.2:c.1061T>G	XP_016877489.1:p.Leu354Arg
XM_017022001.2:c.686T>G	XP_016877490.1:p.Leu229Arg
NM_001145112.2:c.947T>G	NP_001138584.1:p.Leu316Arg
NM_001330283.2:c.380T>G	NP_001317212.1:p.Leu127Arg
NM_001387260.1:c.854T>G	NP_001374189.1:p.Leu285Arg
NM_001387261.1:c.947T>G	NP_001374190.1:p.Leu316Arg
NM_001387262.1:c.947T>G	NP_001374191.1:p.Leu316Arg
NM_001387263.1:c.947T>G MANE Select	NP_001374192.1:p.Leu316Arg
NM_001387264.1:c.854T>G	NP_001374193.1:p.Leu285Arg