Canonical Allele Identifier: CA338233194

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17313109A>T (hg19) ; chr1:g.16986614A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986614A>T , CM000663.2:g.16986614A>T	GRCh38
NC_000001.10:g.17313109A>T , CM000663.1:g.17313109A>T	GRCh37
NC_000001.9:g.17185696A>T	NCBI36
NG_009054.1:g.30315T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3254T>A MANE Select	ENSP00000327214.8:p.Leu1085Gln
ENST00000326735.12:c.3254T>A	ENSP00000327214.8:p.Leu1085Gln
ENST00000341676.9:c.3103+191T>A	ENSP00000341115.5:n.3103+191T>A
ENST00000452699.5:c.3239T>A	ENSP00000413307.1:p.Leu1080Gln
ENST00000466561.1:n.1300T>A
ENST00000502418.1:c.823+191T>A	ENSP00000423065.1:n.823+191T>A
NM_001141973.2:c.3239T>A	NP_001135445.1:p.Leu1080Gln
NM_001141974.2:c.3103+191T>A	NP_001135446.1:n.3103+191T>A
NM_022089.3:c.3254T>A	NP_071372.1:p.Leu1085Gln
XM_005245809.1:c.3235+191T>A	XP_005245866.1:n.3235+191T>A
XM_005245810.1:c.3232+191T>A	XP_005245867.1:n.3232+191T>A
XM_005245811.1:c.3220+191T>A	XP_005245868.1:n.3220+191T>A
XM_005245812.1:c.3208+191T>A	XP_005245869.1:n.3208+191T>A
XM_005245813.1:c.3175+191T>A	XP_005245870.1:n.3175+191T>A
XM_005245815.1:c.3118+191T>A	XP_005245872.1:n.3118+191T>A
XM_006710512.1:c.3217+191T>A	XP_006710575.1:n.3217+191T>A
XM_006710513.1:c.3193+191T>A	XP_006710576.1:n.3193+191T>A
XM_011541128.1:c.3220+191T>A	XP_011539430.1:n.3220+191T>A
XM_011541129.1:c.3028+191T>A	XP_011539431.1:n.3028+191T>A
XM_017000844.1:c.3239T>A	XP_016856333.1:p.Leu1080Gln
XM_017000845.1:c.3236T>A	XP_016856334.1:p.Leu1079Gln
XM_017000846.1:c.3212T>A	XP_016856335.1:p.Leu1071Gln
XM_017000847.1:c.3209T>A	XP_016856336.1:p.Leu1070Gln
XM_017000848.1:c.3137T>A	XP_016856337.1:p.Leu1046Gln
XM_017000849.1:c.3122T>A	XP_016856338.1:p.Leu1041Gln
XM_017000850.1:c.3047T>A	XP_016856339.1:p.Leu1016Gln
NM_022089.4:c.3254T>A MANE Select	NP_071372.1:p.Leu1085Gln
NM_001141973.3:c.3239T>A	NP_001135445.1:p.Leu1080Gln
NM_001141974.3:c.3103+191T>A	NP_001135446.1:n.3103+191T>A