Canonical Allele Identifier: CA338233496

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17313356A>C (hg19) ; chr1:g.16986861A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986861A>C , CM000663.2:g.16986861A>C	GRCh38
NC_000001.10:g.17313356A>C , CM000663.1:g.17313356A>C	GRCh37
NC_000001.9:g.17185943A>C	NCBI36
NG_009054.1:g.30068T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3179T>G MANE Select	ENSP00000327214.8:p.Ile1060Ser
ENST00000326735.12:c.3179T>G	ENSP00000327214.8:p.Ile1060Ser
ENST00000341676.9:c.3047T>G	ENSP00000341115.5:p.Ile1016Ser
ENST00000452699.5:c.3164T>G	ENSP00000413307.1:p.Ile1055Ser
ENST00000466561.1:n.1053T>G
ENST00000502418.1:c.767T>G	ENSP00000423065.1:p.Ile256Ser
NM_001141973.2:c.3164T>G	NP_001135445.1:p.Ile1055Ser
NM_001141974.2:c.3047T>G	NP_001135446.1:p.Ile1016Ser
NM_022089.3:c.3179T>G	NP_071372.1:p.Ile1060Ser
XM_005245809.1:c.3179T>G	XP_005245866.1:p.Ile1060Ser
XM_005245810.1:c.3176T>G	XP_005245867.1:p.Ile1059Ser
XM_005245811.1:c.3164T>G	XP_005245868.1:p.Ile1055Ser
XM_005245812.1:c.3152T>G	XP_005245869.1:p.Ile1051Ser
XM_005245813.1:c.3119T>G	XP_005245870.1:p.Ile1040Ser
XM_005245815.1:c.3062T>G	XP_005245872.1:p.Ile1021Ser
XM_006710512.1:c.3161T>G	XP_006710575.1:p.Ile1054Ser
XM_006710513.1:c.3137T>G	XP_006710576.1:p.Ile1046Ser
XM_011541128.1:c.3164T>G	XP_011539430.1:p.Ile1055Ser
XM_011541129.1:c.2972T>G	XP_011539431.1:p.Ile991Ser
XM_017000844.1:c.3164T>G	XP_016856333.1:p.Ile1055Ser
XM_017000845.1:c.3161T>G	XP_016856334.1:p.Ile1054Ser
XM_017000846.1:c.3137T>G	XP_016856335.1:p.Ile1046Ser
XM_017000847.1:c.3134T>G	XP_016856336.1:p.Ile1045Ser
XM_017000848.1:c.3062T>G	XP_016856337.1:p.Ile1021Ser
XM_017000849.1:c.3047T>G	XP_016856338.1:p.Ile1016Ser
XM_017000850.1:c.2972T>G	XP_016856339.1:p.Ile991Ser
NM_022089.4:c.3179T>G MANE Select	NP_071372.1:p.Ile1060Ser
NM_001141973.3:c.3164T>G	NP_001135445.1:p.Ile1055Ser
NM_001141974.3:c.3047T>G	NP_001135446.1:p.Ile1016Ser