Canonical Allele Identifier: CA338233216

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986625-G-T
• MyVariant Identifiers: chr1:g.17313120G>T (hg19) ; chr1:g.16986625G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986625G>T , CM000663.2:g.16986625G>T	GRCh38
NC_000001.10:g.17313120G>T , CM000663.1:g.17313120G>T	GRCh37
NC_000001.9:g.17185707G>T	NCBI36
NG_009054.1:g.30304C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3243C>A MANE Select	ENSP00000327214.8:p.Phe1081Leu
ENST00000326735.12:c.3243C>A	ENSP00000327214.8:p.Phe1081Leu
ENST00000341676.9:c.3103+180C>A	ENSP00000341115.5:n.3103+180C>A
ENST00000452699.5:c.3228C>A	ENSP00000413307.1:p.Phe1076Leu
ENST00000466561.1:n.1289C>A
ENST00000502418.1:c.823+180C>A	ENSP00000423065.1:n.823+180C>A
NM_001141973.2:c.3228C>A	NP_001135445.1:p.Phe1076Leu
NM_001141974.2:c.3103+180C>A	NP_001135446.1:n.3103+180C>A
NM_022089.3:c.3243C>A	NP_071372.1:p.Phe1081Leu
XM_005245809.1:c.3235+180C>A	XP_005245866.1:n.3235+180C>A
XM_005245810.1:c.3232+180C>A	XP_005245867.1:n.3232+180C>A
XM_005245811.1:c.3220+180C>A	XP_005245868.1:n.3220+180C>A
XM_005245812.1:c.3208+180C>A	XP_005245869.1:n.3208+180C>A
XM_005245813.1:c.3175+180C>A	XP_005245870.1:n.3175+180C>A
XM_005245815.1:c.3118+180C>A	XP_005245872.1:n.3118+180C>A
XM_006710512.1:c.3217+180C>A	XP_006710575.1:n.3217+180C>A
XM_006710513.1:c.3193+180C>A	XP_006710576.1:n.3193+180C>A
XM_011541128.1:c.3220+180C>A	XP_011539430.1:n.3220+180C>A
XM_011541129.1:c.3028+180C>A	XP_011539431.1:n.3028+180C>A
XM_017000844.1:c.3228C>A	XP_016856333.1:p.Phe1076Leu
XM_017000845.1:c.3225C>A	XP_016856334.1:p.Phe1075Leu
XM_017000846.1:c.3201C>A	XP_016856335.1:p.Phe1067Leu
XM_017000847.1:c.3198C>A	XP_016856336.1:p.Phe1066Leu
XM_017000848.1:c.3126C>A	XP_016856337.1:p.Phe1042Leu
XM_017000849.1:c.3111C>A	XP_016856338.1:p.Phe1037Leu
XM_017000850.1:c.3036C>A	XP_016856339.1:p.Phe1012Leu
NM_022089.4:c.3243C>A MANE Select	NP_071372.1:p.Phe1081Leu
NM_001141973.3:c.3228C>A	NP_001135445.1:p.Phe1076Leu
NM_001141974.3:c.3103+180C>A	NP_001135446.1:n.3103+180C>A