Canonical Allele Identifier: CA338233291

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17313309A>T (hg19) ; chr1:g.16986814A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986814A>T , CM000663.2:g.16986814A>T	GRCh38
NC_000001.10:g.17313309A>T , CM000663.1:g.17313309A>T	GRCh37
NC_000001.9:g.17185896A>T	NCBI36
NG_009054.1:g.30115T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3226T>A MANE Select	ENSP00000327214.8:p.Tyr1076Asn
ENST00000326735.12:c.3226T>A	ENSP00000327214.8:p.Tyr1076Asn
ENST00000341676.9:c.3094T>A	ENSP00000341115.5:p.Tyr1032Asn
ENST00000452699.5:c.3211T>A	ENSP00000413307.1:p.Tyr1071Asn
ENST00000466561.1:n.1100T>A
ENST00000502418.1:c.814T>A	ENSP00000423065.1:p.Tyr272Asn
NM_001141973.2:c.3211T>A	NP_001135445.1:p.Tyr1071Asn
NM_001141974.2:c.3094T>A	NP_001135446.1:p.Tyr1032Asn
NM_022089.3:c.3226T>A	NP_071372.1:p.Tyr1076Asn
XM_005245809.1:c.3226T>A	XP_005245866.1:p.Tyr1076Asn
XM_005245810.1:c.3223T>A	XP_005245867.1:p.Tyr1075Asn
XM_005245811.1:c.3211T>A	XP_005245868.1:p.Tyr1071Asn
XM_005245812.1:c.3199T>A	XP_005245869.1:p.Tyr1067Asn
XM_005245813.1:c.3166T>A	XP_005245870.1:p.Tyr1056Asn
XM_005245815.1:c.3109T>A	XP_005245872.1:p.Tyr1037Asn
XM_006710512.1:c.3208T>A	XP_006710575.1:p.Tyr1070Asn
XM_006710513.1:c.3184T>A	XP_006710576.1:p.Tyr1062Asn
XM_011541128.1:c.3211T>A	XP_011539430.1:p.Tyr1071Asn
XM_011541129.1:c.3019T>A	XP_011539431.1:p.Tyr1007Asn
XM_017000844.1:c.3211T>A	XP_016856333.1:p.Tyr1071Asn
XM_017000845.1:c.3208T>A	XP_016856334.1:p.Tyr1070Asn
XM_017000846.1:c.3184T>A	XP_016856335.1:p.Tyr1062Asn
XM_017000847.1:c.3181T>A	XP_016856336.1:p.Tyr1061Asn
XM_017000848.1:c.3109T>A	XP_016856337.1:p.Tyr1037Asn
XM_017000849.1:c.3094T>A	XP_016856338.1:p.Tyr1032Asn
XM_017000850.1:c.3019T>A	XP_016856339.1:p.Tyr1007Asn
NM_022089.4:c.3226T>A MANE Select	NP_071372.1:p.Tyr1076Asn
NM_001141973.3:c.3211T>A	NP_001135445.1:p.Tyr1071Asn
NM_001141974.3:c.3094T>A	NP_001135446.1:p.Tyr1032Asn