Canonical Allele Identifier: CA392241455

Gene: PATL2

Linked Data

• gnomAD v4: 15-44669329-C-T
• MyVariant Identifiers: chr15:g.44961527C>T (hg19) ; chr15:g.44669329C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44669329C>T , CM000677.2:g.44669329C>T	GRCh38
NC_000015.9:g.44961527C>T , CM000677.1:g.44961527C>T	GRCh37
NC_000015.8:g.42748819C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.1015G>A MANE Select	ENSP00000508024.1:p.Val339Ile
ENST00000434130.6:c.1015G>A	ENSP00000416673.1:p.Val339Ile
ENST00000434130.5:c.1015G>A	ENSP00000416673.1:p.Val339Ile
ENST00000560775.5:c.1015G>A	ENSP00000453915.1:p.Val339Ile
ENST00000560780.1:c.448G>A	ENSP00000453695.1:p.Val150Ile
NM_001145112.1:c.1015G>A	NP_001138584.1:p.Val339Ile
XM_005254224.2:c.1015G>A	XP_005254281.1:p.Val339Ile
XM_011521336.1:c.1015G>A	XP_011519638.1:p.Val339Ile
XM_011521337.1:c.1006G>A	XP_011519639.1:p.Val336Ile
XM_011521338.1:c.1015G>A	XP_011519640.1:p.Val339Ile
XM_011521339.1:c.1015G>A	XP_011519641.1:p.Val339Ile
XM_011521340.1:c.1015G>A	XP_011519642.1:p.Val339Ile
XM_011521341.1:c.1015G>A	XP_011519643.1:p.Val339Ile
XM_011521342.1:c.793G>A	XP_011519644.1:p.Val265Ile
XM_011521343.1:c.763G>A	XP_011519645.1:p.Val255Ile
XM_011521344.1:c.763G>A	XP_011519646.1:p.Val255Ile
XM_011521345.1:c.754G>A	XP_011519647.1:p.Val252Ile
XM_011521346.1:c.580G>A	XP_011519648.1:p.Val194Ile
XM_011521347.1:c.448G>A	XP_011519649.1:p.Val150Ile
XM_011521348.1:c.448G>A	XP_011519650.1:p.Val150Ile
NM_001330283.1:c.448G>A	NP_001317212.1:p.Val150Ile
XM_011521336.2:c.1129G>A	XP_011519638.2:p.Val377Ile
XM_011521337.2:c.1120G>A	XP_011519639.2:p.Val374Ile
XM_011521338.3:c.1015G>A	XP_011519640.1:p.Val339Ile
XM_011521339.3:c.1015G>A	XP_011519641.1:p.Val339Ile
XM_011521340.3:c.1015G>A	XP_011519642.1:p.Val339Ile
XM_011521342.2:c.793G>A	XP_011519644.1:p.Val265Ile
XM_011521343.3:c.763G>A	XP_011519645.1:p.Val255Ile
XM_011521344.3:c.763G>A	XP_011519646.1:p.Val255Ile
XM_011521345.3:c.754G>A	XP_011519647.1:p.Val252Ile
XM_011521346.2:c.694G>A	XP_011519648.2:p.Val232Ile
XM_017022000.2:c.1129G>A	XP_016877489.1:p.Val377Ile
XM_017022001.2:c.754G>A	XP_016877490.1:p.Val252Ile
NM_001145112.2:c.1015G>A	NP_001138584.1:p.Val339Ile
NM_001330283.2:c.448G>A	NP_001317212.1:p.Val150Ile
NM_001387260.1:c.922G>A	NP_001374189.1:p.Val308Ile
NM_001387261.1:c.1015G>A	NP_001374190.1:p.Val339Ile
NM_001387262.1:c.1015G>A	NP_001374191.1:p.Val339Ile
NM_001387263.1:c.1015G>A MANE Select	NP_001374192.1:p.Val339Ile
NM_001387264.1:c.922G>A	NP_001374193.1:p.Val308Ile