Canonical Allele Identifier: CA338251564

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17322471C>G (hg19) ; chr1:g.16995976C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16995976C>G , CM000663.2:g.16995976C>G	GRCh38
NC_000001.10:g.17322471C>G , CM000663.1:g.17322471C>G	GRCh37
NC_000001.9:g.17195058C>G	NCBI36
NG_009054.1:g.20953G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1542G>C MANE Select	ENSP00000327214.8:p.Lys514Asn
ENST00000326735.12:c.1542G>C	ENSP00000327214.8:p.Lys514Asn
ENST00000341676.9:c.1527G>C	ENSP00000341115.5:p.Lys509Asn
ENST00000452699.5:c.1527G>C	ENSP00000413307.1:p.Lys509Asn
ENST00000463860.5:n.1150G>C
ENST00000502860.1:n.570G>C
ENST00000503552.1:c.219G>C	ENSP00000421126.1:p.Lys73Asn
ENST00000617114.4:c.570G>C	ENSP00000478781.1:p.Lys190Asn
NM_001141973.2:c.1527G>C	NP_001135445.1:p.Lys509Asn
NM_001141974.2:c.1527G>C	NP_001135446.1:p.Lys509Asn
NM_022089.3:c.1542G>C	NP_071372.1:p.Lys514Asn
XM_005245809.1:c.1542G>C	XP_005245866.1:p.Lys514Asn
XM_005245810.1:c.1539G>C	XP_005245867.1:p.Lys513Asn
XM_005245811.1:c.1527G>C	XP_005245868.1:p.Lys509Asn
XM_005245812.1:c.1515G>C	XP_005245869.1:p.Lys505Asn
XM_005245813.1:c.1542G>C	XP_005245870.1:p.Lys514Asn
XM_005245815.1:c.1542G>C	XP_005245872.1:p.Lys514Asn
XM_006710512.1:c.1524G>C	XP_006710575.1:p.Lys508Asn
XM_006710513.1:c.1500G>C	XP_006710576.1:p.Lys500Asn
XM_011541128.1:c.1527+15G>C	XP_011539430.1:n.1527+15G>C
XM_011541129.1:c.1542G>C	XP_011539431.1:p.Lys514Asn
XM_017000844.1:c.1527+15G>C	XP_016856333.1:n.1527+15G>C
XM_017000845.1:c.1524G>C	XP_016856334.1:p.Lys508Asn
XM_017000846.1:c.1500G>C	XP_016856335.1:p.Lys500Asn
XM_017000847.1:c.1497+15G>C	XP_016856336.1:n.1497+15G>C
XM_017000848.1:c.1542G>C	XP_016856337.1:p.Lys514Asn
XM_017000849.1:c.1527G>C	XP_016856338.1:p.Lys509Asn
XM_017000850.1:c.1542G>C	XP_016856339.1:p.Lys514Asn
NM_022089.4:c.1542G>C MANE Select	NP_071372.1:p.Lys514Asn
NM_001141973.3:c.1527G>C	NP_001135445.1:p.Lys509Asn
NM_001141974.3:c.1527G>C	NP_001135446.1:p.Lys509Asn