Canonical Allele Identifier: CA338254355

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16996412-T-C
• MyVariant Identifiers: chr1:g.17322907T>C (hg19) ; chr1:g.16996412T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996412T>C , CM000663.2:g.16996412T>C	GRCh38
NC_000001.10:g.17322907T>C , CM000663.1:g.17322907T>C	GRCh37
NC_000001.9:g.17195494T>C	NCBI36
NG_009054.1:g.20517A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1280A>G MANE Select	ENSP00000327214.8:p.Lys427Arg
ENST00000326735.12:c.1280A>G	ENSP00000327214.8:p.Lys427Arg
ENST00000341676.9:c.1265A>G	ENSP00000341115.5:p.Lys422Arg
ENST00000452699.5:c.1265A>G	ENSP00000413307.1:p.Lys422Arg
ENST00000463860.5:n.888A>G
ENST00000502860.1:n.335-112A>G
ENST00000506174.5:c.422A>G	ENSP00000424393.1:p.Lys141Arg
ENST00000509392.1:n.283A>G
ENST00000617114.4:c.335-112A>G	ENSP00000478781.1:n.335-112A>G
NM_001141973.2:c.1265A>G	NP_001135445.1:p.Lys422Arg
NM_001141974.2:c.1265A>G	NP_001135446.1:p.Lys422Arg
NM_022089.3:c.1280A>G	NP_071372.1:p.Lys427Arg
XM_005245809.1:c.1280A>G	XP_005245866.1:p.Lys427Arg
XM_005245810.1:c.1277A>G	XP_005245867.1:p.Lys426Arg
XM_005245811.1:c.1265A>G	XP_005245868.1:p.Lys422Arg
XM_005245812.1:c.1253A>G	XP_005245869.1:p.Lys418Arg
XM_005245813.1:c.1280A>G	XP_005245870.1:p.Lys427Arg
XM_005245815.1:c.1280A>G	XP_005245872.1:p.Lys427Arg
XM_006710512.1:c.1262A>G	XP_006710575.1:p.Lys421Arg
XM_006710513.1:c.1238A>G	XP_006710576.1:p.Lys413Arg
XM_011541128.1:c.1280A>G	XP_011539430.1:p.Lys427Arg
XM_011541129.1:c.1280A>G	XP_011539431.1:p.Lys427Arg
XM_017000844.1:c.1280A>G	XP_016856333.1:p.Lys427Arg
XM_017000845.1:c.1262A>G	XP_016856334.1:p.Lys421Arg
XM_017000846.1:c.1238A>G	XP_016856335.1:p.Lys413Arg
XM_017000847.1:c.1250A>G	XP_016856336.1:p.Lys417Arg
XM_017000848.1:c.1280A>G	XP_016856337.1:p.Lys427Arg
XM_017000849.1:c.1265A>G	XP_016856338.1:p.Lys422Arg
XM_017000850.1:c.1280A>G	XP_016856339.1:p.Lys427Arg
NM_022089.4:c.1280A>G MANE Select	NP_071372.1:p.Lys427Arg
NM_001141973.3:c.1265A>G	NP_001135445.1:p.Lys422Arg
NM_001141974.3:c.1265A>G	NP_001135446.1:p.Lys422Arg