Canonical Allele Identifier: CA338232117

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312751G>T (hg19) ; chr1:g.16986256G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986256G>T , CM000663.2:g.16986256G>T	GRCh38
NC_000001.10:g.17312751G>T , CM000663.1:g.17312751G>T	GRCh37
NC_000001.9:g.17185338G>T	NCBI36
NG_009054.1:g.30673C>A
NG_029688.1:g.331C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3508C>A MANE Select	ENSP00000327214.8:p.Pro1170Thr
ENST00000326735.12:c.3508C>A	ENSP00000327214.8:p.Pro1170Thr
ENST00000341676.9:c.3206C>A	ENSP00000341115.5:p.Ala1069Asp
ENST00000452699.5:c.3493C>A	ENSP00000413307.1:p.Pro1165Thr
ENST00000466561.1:n.1554C>A
ENST00000502418.1:c.926C>A	ENSP00000423065.1:p.Ala309Asp
NM_001141973.2:c.3493C>A	NP_001135445.1:p.Pro1165Thr
NM_001141974.2:c.3206C>A	NP_001135446.1:p.Ala1069Asp
NM_022089.3:c.3508C>A	NP_071372.1:p.Pro1170Thr
XM_005245809.1:c.3338C>A	XP_005245866.1:p.Ala1113Asp
XM_005245810.1:c.3335C>A	XP_005245867.1:p.Ala1112Asp
XM_005245811.1:c.3323C>A	XP_005245868.1:p.Ala1108Asp
XM_005245812.1:c.3311C>A	XP_005245869.1:p.Ala1104Asp
XM_005245813.1:c.3278C>A	XP_005245870.1:p.Ala1093Asp
XM_005245815.1:c.3221C>A	XP_005245872.1:p.Ala1074Asp
XM_006710512.1:c.3320C>A	XP_006710575.1:p.Ala1107Asp
XM_006710513.1:c.3296C>A	XP_006710576.1:p.Ala1099Asp
XM_011541128.1:c.3323C>A	XP_011539430.1:p.Ala1108Asp
XM_011541129.1:c.3131C>A	XP_011539431.1:p.Ala1044Asp
XM_017000844.1:c.3493C>A	XP_016856333.1:p.Pro1165Thr
XM_017000845.1:c.3490C>A	XP_016856334.1:p.Pro1164Thr
XM_017000846.1:c.3466C>A	XP_016856335.1:p.Pro1156Thr
XM_017000847.1:c.3463C>A	XP_016856336.1:p.Pro1155Thr
XM_017000848.1:c.3391C>A	XP_016856337.1:p.Pro1131Thr
XM_017000849.1:c.3376C>A	XP_016856338.1:p.Pro1126Thr
XM_017000850.1:c.3301C>A	XP_016856339.1:p.Pro1101Thr
NM_022089.4:c.3508C>A MANE Select	NP_071372.1:p.Pro1170Thr
NM_001141973.3:c.3493C>A	NP_001135445.1:p.Pro1165Thr
NM_001141974.3:c.3206C>A	NP_001135446.1:p.Ala1069Asp