Canonical Allele Identifier: CA338233337

Gene: ATP13A2

Linked Data

• dbSNP Id: rs1456886008
• gnomAD v2: 1-17313324-A-G
• gnomAD v3: 1-16986829-A-G
• gnomAD v4: 1-16986829-A-G
• MyVariant Identifiers: chr1:g.17313324A>G (hg19) ; chr1:g.16986829A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986829A>G , CM000663.2:g.16986829A>G	GRCh38
NC_000001.10:g.17313324A>G , CM000663.1:g.17313324A>G	GRCh37
NC_000001.9:g.17185911A>G	NCBI36
NG_009054.1:g.30100T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3211T>C MANE Select	ENSP00000327214.8:p.Phe1071Leu
ENST00000326735.12:c.3211T>C	ENSP00000327214.8:p.Phe1071Leu
ENST00000341676.9:c.3079T>C	ENSP00000341115.5:p.Phe1027Leu
ENST00000452699.5:c.3196T>C	ENSP00000413307.1:p.Phe1066Leu
ENST00000466561.1:n.1085T>C
ENST00000502418.1:c.799T>C	ENSP00000423065.1:p.Phe267Leu
NM_001141973.2:c.3196T>C	NP_001135445.1:p.Phe1066Leu
NM_001141974.2:c.3079T>C	NP_001135446.1:p.Phe1027Leu
NM_022089.3:c.3211T>C	NP_071372.1:p.Phe1071Leu
XM_005245809.1:c.3211T>C	XP_005245866.1:p.Phe1071Leu
XM_005245810.1:c.3208T>C	XP_005245867.1:p.Phe1070Leu
XM_005245811.1:c.3196T>C	XP_005245868.1:p.Phe1066Leu
XM_005245812.1:c.3184T>C	XP_005245869.1:p.Phe1062Leu
XM_005245813.1:c.3151T>C	XP_005245870.1:p.Phe1051Leu
XM_005245815.1:c.3094T>C	XP_005245872.1:p.Phe1032Leu
XM_006710512.1:c.3193T>C	XP_006710575.1:p.Phe1065Leu
XM_006710513.1:c.3169T>C	XP_006710576.1:p.Phe1057Leu
XM_011541128.1:c.3196T>C	XP_011539430.1:p.Phe1066Leu
XM_011541129.1:c.3004T>C	XP_011539431.1:p.Phe1002Leu
XM_017000844.1:c.3196T>C	XP_016856333.1:p.Phe1066Leu
XM_017000845.1:c.3193T>C	XP_016856334.1:p.Phe1065Leu
XM_017000846.1:c.3169T>C	XP_016856335.1:p.Phe1057Leu
XM_017000847.1:c.3166T>C	XP_016856336.1:p.Phe1056Leu
XM_017000848.1:c.3094T>C	XP_016856337.1:p.Phe1032Leu
XM_017000849.1:c.3079T>C	XP_016856338.1:p.Phe1027Leu
XM_017000850.1:c.3004T>C	XP_016856339.1:p.Phe1002Leu
NM_022089.4:c.3211T>C MANE Select	NP_071372.1:p.Phe1071Leu
NM_001141973.3:c.3196T>C	NP_001135445.1:p.Phe1066Leu
NM_001141974.3:c.3079T>C	NP_001135446.1:p.Phe1027Leu