Canonical Allele Identifier: CA338233209

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17313116C>T (hg19) ; chr1:g.16986621C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986621C>T , CM000663.2:g.16986621C>T	GRCh38
NC_000001.10:g.17313116C>T , CM000663.1:g.17313116C>T	GRCh37
NC_000001.9:g.17185703C>T	NCBI36
NG_009054.1:g.30308G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3247G>A MANE Select	ENSP00000327214.8:p.Val1083Met
ENST00000326735.12:c.3247G>A	ENSP00000327214.8:p.Val1083Met
ENST00000341676.9:c.3103+184G>A	ENSP00000341115.5:n.3103+184G>A
ENST00000452699.5:c.3232G>A	ENSP00000413307.1:p.Val1078Met
ENST00000466561.1:n.1293G>A
ENST00000502418.1:c.823+184G>A	ENSP00000423065.1:n.823+184G>A
NM_001141973.2:c.3232G>A	NP_001135445.1:p.Val1078Met
NM_001141974.2:c.3103+184G>A	NP_001135446.1:n.3103+184G>A
NM_022089.3:c.3247G>A	NP_071372.1:p.Val1083Met
XM_005245809.1:c.3235+184G>A	XP_005245866.1:n.3235+184G>A
XM_005245810.1:c.3232+184G>A	XP_005245867.1:n.3232+184G>A
XM_005245811.1:c.3220+184G>A	XP_005245868.1:n.3220+184G>A
XM_005245812.1:c.3208+184G>A	XP_005245869.1:n.3208+184G>A
XM_005245813.1:c.3175+184G>A	XP_005245870.1:n.3175+184G>A
XM_005245815.1:c.3118+184G>A	XP_005245872.1:n.3118+184G>A
XM_006710512.1:c.3217+184G>A	XP_006710575.1:n.3217+184G>A
XM_006710513.1:c.3193+184G>A	XP_006710576.1:n.3193+184G>A
XM_011541128.1:c.3220+184G>A	XP_011539430.1:n.3220+184G>A
XM_011541129.1:c.3028+184G>A	XP_011539431.1:n.3028+184G>A
XM_017000844.1:c.3232G>A	XP_016856333.1:p.Val1078Met
XM_017000845.1:c.3229G>A	XP_016856334.1:p.Val1077Met
XM_017000846.1:c.3205G>A	XP_016856335.1:p.Val1069Met
XM_017000847.1:c.3202G>A	XP_016856336.1:p.Val1068Met
XM_017000848.1:c.3130G>A	XP_016856337.1:p.Val1044Met
XM_017000849.1:c.3115G>A	XP_016856338.1:p.Val1039Met
XM_017000850.1:c.3040G>A	XP_016856339.1:p.Val1014Met
NM_022089.4:c.3247G>A MANE Select	NP_071372.1:p.Val1083Met
NM_001141973.3:c.3232G>A	NP_001135445.1:p.Val1078Met
NM_001141974.3:c.3103+184G>A	NP_001135446.1:n.3103+184G>A