Canonical Allele Identifier: CA338231970

Gene: ATP13A2

Linked Data

• dbSNP Id: rs547860186
• gnomAD v3: 1-16986235-C-A
• gnomAD v4: 1-16986235-C-A
• MyVariant Identifiers: chr1:g.17312730C>A (hg19) ; chr1:g.16986235C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986235C>A , CM000663.2:g.16986235C>A	GRCh38
NC_000001.10:g.17312730C>A , CM000663.1:g.17312730C>A	GRCh37
NC_000001.9:g.17185317C>A	NCBI36
NG_009054.1:g.30694G>T
NG_029688.1:g.352G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3529G>T MANE Select	ENSP00000327214.8:p.Gly1177Cys
ENST00000326735.12:c.3529G>T	ENSP00000327214.8:p.Gly1177Cys
ENST00000341676.9:c.3227G>T	ENSP00000341115.5:p.Arg1076Leu
ENST00000452699.5:c.3514G>T	ENSP00000413307.1:p.Gly1172Cys
ENST00000466561.1:n.1575G>T
ENST00000502418.1:c.947G>T	ENSP00000423065.1:p.Arg316Leu
NM_001141973.2:c.3514G>T	NP_001135445.1:p.Gly1172Cys
NM_001141974.2:c.3227G>T	NP_001135446.1:p.Arg1076Leu
NM_022089.3:c.3529G>T	NP_071372.1:p.Gly1177Cys
XM_005245809.1:c.3359G>T	XP_005245866.1:p.Arg1120Leu
XM_005245810.1:c.3356G>T	XP_005245867.1:p.Arg1119Leu
XM_005245811.1:c.3344G>T	XP_005245868.1:p.Arg1115Leu
XM_005245812.1:c.3332G>T	XP_005245869.1:p.Arg1111Leu
XM_005245813.1:c.3299G>T	XP_005245870.1:p.Arg1100Leu
XM_005245815.1:c.3242G>T	XP_005245872.1:p.Arg1081Leu
XM_006710512.1:c.3341G>T	XP_006710575.1:p.Arg1114Leu
XM_006710513.1:c.3317G>T	XP_006710576.1:p.Arg1106Leu
XM_011541128.1:c.3344G>T	XP_011539430.1:p.Arg1115Leu
XM_011541129.1:c.3152G>T	XP_011539431.1:p.Arg1051Leu
XM_017000844.1:c.3514G>T	XP_016856333.1:p.Gly1172Cys
XM_017000845.1:c.3511G>T	XP_016856334.1:p.Gly1171Cys
XM_017000846.1:c.3487G>T	XP_016856335.1:p.Gly1163Cys
XM_017000847.1:c.3484G>T	XP_016856336.1:p.Gly1162Cys
XM_017000848.1:c.3412G>T	XP_016856337.1:p.Gly1138Cys
XM_017000849.1:c.3397G>T	XP_016856338.1:p.Gly1133Cys
XM_017000850.1:c.3322G>T	XP_016856339.1:p.Gly1108Cys
NM_022089.4:c.3529G>T MANE Select	NP_071372.1:p.Gly1177Cys
NM_001141973.3:c.3514G>T	NP_001135445.1:p.Gly1172Cys
NM_001141974.3:c.3227G>T	NP_001135446.1:p.Arg1076Leu