Canonical Allele Identifier: CA338233519

Gene: ATP13A2

Linked Data

• dbSNP Id: rs2076749957
• MyVariant Identifiers: chr1:g.17313362T>A (hg19) ; chr1:g.16986867T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986867T>A , CM000663.2:g.16986867T>A	GRCh38
NC_000001.10:g.17313362T>A , CM000663.1:g.17313362T>A	GRCh37
NC_000001.9:g.17185949T>A	NCBI36
NG_009054.1:g.30062A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3173A>T MANE Select	ENSP00000327214.8:p.Tyr1058Phe
ENST00000326735.12:c.3173A>T	ENSP00000327214.8:p.Tyr1058Phe
ENST00000341676.9:c.3041A>T	ENSP00000341115.5:p.Tyr1014Phe
ENST00000452699.5:c.3158A>T	ENSP00000413307.1:p.Tyr1053Phe
ENST00000466561.1:n.1047A>T
ENST00000502418.1:c.761A>T	ENSP00000423065.1:p.Tyr254Phe
NM_001141973.2:c.3158A>T	NP_001135445.1:p.Tyr1053Phe
NM_001141974.2:c.3041A>T	NP_001135446.1:p.Tyr1014Phe
NM_022089.3:c.3173A>T	NP_071372.1:p.Tyr1058Phe
XM_005245809.1:c.3173A>T	XP_005245866.1:p.Tyr1058Phe
XM_005245810.1:c.3170A>T	XP_005245867.1:p.Tyr1057Phe
XM_005245811.1:c.3158A>T	XP_005245868.1:p.Tyr1053Phe
XM_005245812.1:c.3146A>T	XP_005245869.1:p.Tyr1049Phe
XM_005245813.1:c.3113A>T	XP_005245870.1:p.Tyr1038Phe
XM_005245815.1:c.3056A>T	XP_005245872.1:p.Tyr1019Phe
XM_006710512.1:c.3155A>T	XP_006710575.1:p.Tyr1052Phe
XM_006710513.1:c.3131A>T	XP_006710576.1:p.Tyr1044Phe
XM_011541128.1:c.3158A>T	XP_011539430.1:p.Tyr1053Phe
XM_011541129.1:c.2966A>T	XP_011539431.1:p.Tyr989Phe
XM_017000844.1:c.3158A>T	XP_016856333.1:p.Tyr1053Phe
XM_017000845.1:c.3155A>T	XP_016856334.1:p.Tyr1052Phe
XM_017000846.1:c.3131A>T	XP_016856335.1:p.Tyr1044Phe
XM_017000847.1:c.3128A>T	XP_016856336.1:p.Tyr1043Phe
XM_017000848.1:c.3056A>T	XP_016856337.1:p.Tyr1019Phe
XM_017000849.1:c.3041A>T	XP_016856338.1:p.Tyr1014Phe
XM_017000850.1:c.2966A>T	XP_016856339.1:p.Tyr989Phe
NM_022089.4:c.3173A>T MANE Select	NP_071372.1:p.Tyr1058Phe
NM_001141973.3:c.3158A>T	NP_001135445.1:p.Tyr1053Phe
NM_001141974.3:c.3041A>T	NP_001135446.1:p.Tyr1014Phe