Canonical Allele Identifier: CA151963

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 128475
• ClinVar RCV Id: RCV000116444 ; RCV000336632 ; RCV000675885
• dbSNP Id: rs3170740
• ExAC: 1:17312743 C / T
• gnomAD v2: 1-17312743-C-T
• gnomAD v3: 1-16986248-C-T
• gnomAD v4: 1-16986248-C-T
• MyVariant Identifiers: chr1:g.17312743C>T (hg19) ; chr1:g.16986248C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986248C>T , CM000663.2:g.16986248C>T	GRCh38
NC_000001.10:g.17312743C>T , CM000663.1:g.17312743C>T	GRCh37
NC_000001.9:g.17185330C>T	NCBI36
NG_009054.1:g.30681G>A
NG_029688.1:g.339G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3516G>A MANE Select	ENSP00000327214.8:p.Pro1172=
ENST00000326735.12:c.3516G>A	ENSP00000327214.8:p.Pro1172=
ENST00000341676.9:c.3214G>A	ENSP00000341115.5:p.Ala1072Thr
ENST00000452699.5:c.3501G>A	ENSP00000413307.1:p.Pro1167=
ENST00000466561.1:n.1562G>A
ENST00000502418.1:c.934G>A	ENSP00000423065.1:p.Ala312Thr
NM_001141973.2:c.3501G>A	NP_001135445.1:p.Pro1167=
NM_001141974.2:c.3214G>A	NP_001135446.1:p.Ala1072Thr
NM_022089.3:c.3516G>A	NP_071372.1:p.Pro1172=
XM_005245809.1:c.3346G>A	XP_005245866.1:p.Ala1116Thr
XM_005245810.1:c.3343G>A	XP_005245867.1:p.Ala1115Thr
XM_005245811.1:c.3331G>A	XP_005245868.1:p.Ala1111Thr
XM_005245812.1:c.3319G>A	XP_005245869.1:p.Ala1107Thr
XM_005245813.1:c.3286G>A	XP_005245870.1:p.Ala1096Thr
XM_005245815.1:c.3229G>A	XP_005245872.1:p.Ala1077Thr
XM_006710512.1:c.3328G>A	XP_006710575.1:p.Ala1110Thr
XM_006710513.1:c.3304G>A	XP_006710576.1:p.Ala1102Thr
XM_011541128.1:c.3331G>A	XP_011539430.1:p.Ala1111Thr
XM_011541129.1:c.3139G>A	XP_011539431.1:p.Ala1047Thr
XM_017000844.1:c.3501G>A	XP_016856333.1:p.Pro1167=
XM_017000845.1:c.3498G>A	XP_016856334.1:p.Pro1166=
XM_017000846.1:c.3474G>A	XP_016856335.1:p.Pro1158=
XM_017000847.1:c.3471G>A	XP_016856336.1:p.Pro1157=
XM_017000848.1:c.3399G>A	XP_016856337.1:p.Pro1133=
XM_017000849.1:c.3384G>A	XP_016856338.1:p.Pro1128=
XM_017000850.1:c.3309G>A	XP_016856339.1:p.Pro1103=
NM_022089.4:c.3516G>A MANE Select	NP_071372.1:p.Pro1172=
NM_001141973.3:c.3501G>A	NP_001135445.1:p.Pro1167=
NM_001141974.3:c.3214G>A	NP_001135446.1:p.Ala1072Thr