Canonical Allele Identifier: CA338232330

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986293-C-T
• MyVariant Identifiers: chr1:g.17312788C>T (hg19) ; chr1:g.16986293C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986293C>T , CM000663.2:g.16986293C>T	GRCh38
NC_000001.10:g.17312788C>T , CM000663.1:g.17312788C>T	GRCh37
NC_000001.9:g.17185375C>T	NCBI36
NG_009054.1:g.30636G>A
NG_029688.1:g.294G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3471G>A MANE Select	ENSP00000327214.8:p.Lys1157=
ENST00000326735.12:c.3471G>A	ENSP00000327214.8:p.Lys1157=
ENST00000341676.9:c.3169G>A	ENSP00000341115.5:p.Ala1057Thr
ENST00000452699.5:c.3456G>A	ENSP00000413307.1:p.Lys1152=
ENST00000466561.1:n.1517G>A
ENST00000502418.1:c.889G>A	ENSP00000423065.1:p.Ala297Thr
NM_001141973.2:c.3456G>A	NP_001135445.1:p.Lys1152=
NM_001141974.2:c.3169G>A	NP_001135446.1:p.Ala1057Thr
NM_022089.3:c.3471G>A	NP_071372.1:p.Lys1157=
XM_005245809.1:c.3301G>A	XP_005245866.1:p.Ala1101Thr
XM_005245810.1:c.3298G>A	XP_005245867.1:p.Ala1100Thr
XM_005245811.1:c.3286G>A	XP_005245868.1:p.Ala1096Thr
XM_005245812.1:c.3274G>A	XP_005245869.1:p.Ala1092Thr
XM_005245813.1:c.3241G>A	XP_005245870.1:p.Ala1081Thr
XM_005245815.1:c.3184G>A	XP_005245872.1:p.Ala1062Thr
XM_006710512.1:c.3283G>A	XP_006710575.1:p.Ala1095Thr
XM_006710513.1:c.3259G>A	XP_006710576.1:p.Ala1087Thr
XM_011541128.1:c.3286G>A	XP_011539430.1:p.Ala1096Thr
XM_011541129.1:c.3094G>A	XP_011539431.1:p.Ala1032Thr
XM_017000844.1:c.3456G>A	XP_016856333.1:p.Lys1152=
XM_017000845.1:c.3453G>A	XP_016856334.1:p.Lys1151=
XM_017000846.1:c.3429G>A	XP_016856335.1:p.Lys1143=
XM_017000847.1:c.3426G>A	XP_016856336.1:p.Lys1142=
XM_017000848.1:c.3354G>A	XP_016856337.1:p.Lys1118=
XM_017000849.1:c.3339G>A	XP_016856338.1:p.Lys1113=
XM_017000850.1:c.3264G>A	XP_016856339.1:p.Lys1088=
NM_022089.4:c.3471G>A MANE Select	NP_071372.1:p.Lys1157=
NM_001141973.3:c.3456G>A	NP_001135445.1:p.Lys1152=
NM_001141974.3:c.3169G>A	NP_001135446.1:p.Ala1057Thr