Canonical Allele Identifier: CA392241739

Gene: PATL2

Linked Data

• dbSNP Id: rs1284337483
• gnomAD v2: 15-44961595-A-G
• gnomAD v4: 15-44669397-A-G
• MyVariant Identifiers: chr15:g.44961595A>G (hg19) ; chr15:g.44669397A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000682850.1:c.947T>C MANE Select	ENSP00000508024.1:p.Leu316Pro
ENST00000434130.6:c.947T>C	ENSP00000416673.1:p.Leu316Pro
ENST00000434130.5:c.947T>C	ENSP00000416673.1:p.Leu316Pro
ENST00000560775.5:c.947T>C	ENSP00000453915.1:p.Leu316Pro
ENST00000560780.1:c.380T>C	ENSP00000453695.1:p.Leu127Pro
NM_001145112.1:c.947T>C	NP_001138584.1:p.Leu316Pro
XM_005254224.2:c.947T>C	XP_005254281.1:p.Leu316Pro
XM_011521336.1:c.947T>C	XP_011519638.1:p.Leu316Pro
XM_011521337.1:c.938T>C	XP_011519639.1:p.Leu313Pro
XM_011521338.1:c.947T>C	XP_011519640.1:p.Leu316Pro
XM_011521339.1:c.947T>C	XP_011519641.1:p.Leu316Pro
XM_011521340.1:c.947T>C	XP_011519642.1:p.Leu316Pro
XM_011521341.1:c.947T>C	XP_011519643.1:p.Leu316Pro
XM_011521342.1:c.725T>C	XP_011519644.1:p.Leu242Pro
XM_011521343.1:c.695T>C	XP_011519645.1:p.Leu232Pro
XM_011521344.1:c.695T>C	XP_011519646.1:p.Leu232Pro
XM_011521345.1:c.686T>C	XP_011519647.1:p.Leu229Pro
XM_011521346.1:c.512T>C	XP_011519648.1:p.Leu171Pro
XM_011521347.1:c.380T>C	XP_011519649.1:p.Leu127Pro
XM_011521348.1:c.380T>C	XP_011519650.1:p.Leu127Pro
NM_001330283.1:c.380T>C	NP_001317212.1:p.Leu127Pro
XM_011521336.2:c.1061T>C	XP_011519638.2:p.Leu354Pro
XM_011521337.2:c.1052T>C	XP_011519639.2:p.Leu351Pro
XM_011521338.3:c.947T>C	XP_011519640.1:p.Leu316Pro
XM_011521339.3:c.947T>C	XP_011519641.1:p.Leu316Pro
XM_011521340.3:c.947T>C	XP_011519642.1:p.Leu316Pro
XM_011521342.2:c.725T>C	XP_011519644.1:p.Leu242Pro
XM_011521343.3:c.695T>C	XP_011519645.1:p.Leu232Pro
XM_011521344.3:c.695T>C	XP_011519646.1:p.Leu232Pro
XM_011521345.3:c.686T>C	XP_011519647.1:p.Leu229Pro
XM_011521346.2:c.626T>C	XP_011519648.2:p.Leu209Pro
XM_017022000.2:c.1061T>C	XP_016877489.1:p.Leu354Pro
XM_017022001.2:c.686T>C	XP_016877490.1:p.Leu229Pro
NM_001145112.2:c.947T>C	NP_001138584.1:p.Leu316Pro
NM_001330283.2:c.380T>C	NP_001317212.1:p.Leu127Pro
NM_001387260.1:c.854T>C	NP_001374189.1:p.Leu285Pro
NM_001387261.1:c.947T>C	NP_001374190.1:p.Leu316Pro
NM_001387262.1:c.947T>C	NP_001374191.1:p.Leu316Pro
NM_001387263.1:c.947T>C MANE Select	NP_001374192.1:p.Leu316Pro
NM_001387264.1:c.854T>C	NP_001374193.1:p.Leu285Pro