Canonical Allele Identifier: CA338232927

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17313031A>C (hg19) ; chr1:g.16986536A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986536A>C , CM000663.2:g.16986536A>C	GRCh38
NC_000001.10:g.17313031A>C , CM000663.1:g.17313031A>C	GRCh37
NC_000001.9:g.17185618A>C	NCBI36
NG_009054.1:g.30393T>G
NG_029688.1:g.51T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3332T>G MANE Select	ENSP00000327214.8:p.Ile1111Ser
ENST00000326735.12:c.3332T>G	ENSP00000327214.8:p.Ile1111Ser
ENST00000341676.9:c.3104-178T>G	ENSP00000341115.5:n.3104-178T>G
ENST00000452699.5:c.3317T>G	ENSP00000413307.1:p.Ile1106Ser
ENST00000466561.1:n.1378T>G
ENST00000502418.1:c.824-178T>G	ENSP00000423065.1:n.824-178T>G
NM_001141973.2:c.3317T>G	NP_001135445.1:p.Ile1106Ser
NM_001141974.2:c.3104-178T>G	NP_001135446.1:n.3104-178T>G
NM_022089.3:c.3332T>G	NP_071372.1:p.Ile1111Ser
XM_005245809.1:c.3236-178T>G	XP_005245866.1:n.3236-178T>G
XM_005245810.1:c.3233-178T>G	XP_005245867.1:n.3233-178T>G
XM_005245811.1:c.3221-178T>G	XP_005245868.1:n.3221-178T>G
XM_005245812.1:c.3209-178T>G	XP_005245869.1:n.3209-178T>G
XM_005245813.1:c.3176-178T>G	XP_005245870.1:n.3176-178T>G
XM_005245815.1:c.3119-178T>G	XP_005245872.1:n.3119-178T>G
XM_006710512.1:c.3218-178T>G	XP_006710575.1:n.3218-178T>G
XM_006710513.1:c.3194-178T>G	XP_006710576.1:n.3194-178T>G
XM_011541128.1:c.3221-178T>G	XP_011539430.1:n.3221-178T>G
XM_011541129.1:c.3029-178T>G	XP_011539431.1:n.3029-178T>G
XM_017000844.1:c.3317T>G	XP_016856333.1:p.Ile1106Ser
XM_017000845.1:c.3314T>G	XP_016856334.1:p.Ile1105Ser
XM_017000846.1:c.3290T>G	XP_016856335.1:p.Ile1097Ser
XM_017000847.1:c.3287T>G	XP_016856336.1:p.Ile1096Ser
XM_017000848.1:c.3215T>G	XP_016856337.1:p.Ile1072Ser
XM_017000849.1:c.3200T>G	XP_016856338.1:p.Ile1067Ser
XM_017000850.1:c.3125T>G	XP_016856339.1:p.Ile1042Ser
NM_022089.4:c.3332T>G MANE Select	NP_071372.1:p.Ile1111Ser
NM_001141973.3:c.3317T>G	NP_001135445.1:p.Ile1106Ser
NM_001141974.3:c.3104-178T>G	NP_001135446.1:n.3104-178T>G