Canonical Allele Identifier: CA416093550

Gene: ATP13A2

Linked Data

• dbSNP Id: rs1423139551
• gnomAD v3: 1-16986815-G-A
• gnomAD v4: 1-16986815-G-A
• MyVariant Identifiers: chr1:g.17313310G>A (hg19) ; chr1:g.16986815G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986815G>A , CM000663.2:g.16986815G>A	GRCh38
NC_000001.10:g.17313310G>A , CM000663.1:g.17313310G>A	GRCh37
NC_000001.9:g.17185897G>A	NCBI36
NG_009054.1:g.30114C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3225C>T MANE Select	ENSP00000327214.8:p.Leu1075=
ENST00000326735.12:c.3225C>T	ENSP00000327214.8:p.Leu1075=
ENST00000341676.9:c.3093C>T	ENSP00000341115.5:p.Leu1031=
ENST00000452699.5:c.3210C>T	ENSP00000413307.1:p.Leu1070=
ENST00000466561.1:n.1099C>T
ENST00000502418.1:c.813C>T	ENSP00000423065.1:p.Leu271=
NM_001141973.2:c.3210C>T	NP_001135445.1:p.Leu1070=
NM_001141974.2:c.3093C>T	NP_001135446.1:p.Leu1031=
NM_022089.3:c.3225C>T	NP_071372.1:p.Leu1075=
XM_005245809.1:c.3225C>T	XP_005245866.1:p.Leu1075=
XM_005245810.1:c.3222C>T	XP_005245867.1:p.Leu1074=
XM_005245811.1:c.3210C>T	XP_005245868.1:p.Leu1070=
XM_005245812.1:c.3198C>T	XP_005245869.1:p.Leu1066=
XM_005245813.1:c.3165C>T	XP_005245870.1:p.Leu1055=
XM_005245815.1:c.3108C>T	XP_005245872.1:p.Leu1036=
XM_006710512.1:c.3207C>T	XP_006710575.1:p.Leu1069=
XM_006710513.1:c.3183C>T	XP_006710576.1:p.Leu1061=
XM_011541128.1:c.3210C>T	XP_011539430.1:p.Leu1070=
XM_011541129.1:c.3018C>T	XP_011539431.1:p.Leu1006=
XM_017000844.1:c.3210C>T	XP_016856333.1:p.Leu1070=
XM_017000845.1:c.3207C>T	XP_016856334.1:p.Leu1069=
XM_017000846.1:c.3183C>T	XP_016856335.1:p.Leu1061=
XM_017000847.1:c.3180C>T	XP_016856336.1:p.Leu1060=
XM_017000848.1:c.3108C>T	XP_016856337.1:p.Leu1036=
XM_017000849.1:c.3093C>T	XP_016856338.1:p.Leu1031=
XM_017000850.1:c.3018C>T	XP_016856339.1:p.Leu1006=
NM_022089.4:c.3225C>T MANE Select	NP_071372.1:p.Leu1075=
NM_001141973.3:c.3210C>T	NP_001135445.1:p.Leu1070=
NM_001141974.3:c.3093C>T	NP_001135446.1:p.Leu1031=