Canonical Allele Identifier: CA338233522

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17313362T>G (hg19) ; chr1:g.16986867T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3173A>C MANE Select	ENSP00000327214.8:p.Tyr1058Ser
ENST00000326735.12:c.3173A>C	ENSP00000327214.8:p.Tyr1058Ser
ENST00000341676.9:c.3041A>C	ENSP00000341115.5:p.Tyr1014Ser
ENST00000452699.5:c.3158A>C	ENSP00000413307.1:p.Tyr1053Ser
ENST00000466561.1:n.1047A>C
ENST00000502418.1:c.761A>C	ENSP00000423065.1:p.Tyr254Ser
NM_001141973.2:c.3158A>C	NP_001135445.1:p.Tyr1053Ser
NM_001141974.2:c.3041A>C	NP_001135446.1:p.Tyr1014Ser
NM_022089.3:c.3173A>C	NP_071372.1:p.Tyr1058Ser
XM_005245809.1:c.3173A>C	XP_005245866.1:p.Tyr1058Ser
XM_005245810.1:c.3170A>C	XP_005245867.1:p.Tyr1057Ser
XM_005245811.1:c.3158A>C	XP_005245868.1:p.Tyr1053Ser
XM_005245812.1:c.3146A>C	XP_005245869.1:p.Tyr1049Ser
XM_005245813.1:c.3113A>C	XP_005245870.1:p.Tyr1038Ser
XM_005245815.1:c.3056A>C	XP_005245872.1:p.Tyr1019Ser
XM_006710512.1:c.3155A>C	XP_006710575.1:p.Tyr1052Ser
XM_006710513.1:c.3131A>C	XP_006710576.1:p.Tyr1044Ser
XM_011541128.1:c.3158A>C	XP_011539430.1:p.Tyr1053Ser
XM_011541129.1:c.2966A>C	XP_011539431.1:p.Tyr989Ser
XM_017000844.1:c.3158A>C	XP_016856333.1:p.Tyr1053Ser
XM_017000845.1:c.3155A>C	XP_016856334.1:p.Tyr1052Ser
XM_017000846.1:c.3131A>C	XP_016856335.1:p.Tyr1044Ser
XM_017000847.1:c.3128A>C	XP_016856336.1:p.Tyr1043Ser
XM_017000848.1:c.3056A>C	XP_016856337.1:p.Tyr1019Ser
XM_017000849.1:c.3041A>C	XP_016856338.1:p.Tyr1014Ser
XM_017000850.1:c.2966A>C	XP_016856339.1:p.Tyr989Ser
NM_022089.4:c.3173A>C MANE Select	NP_071372.1:p.Tyr1058Ser
NM_001141973.3:c.3158A>C	NP_001135445.1:p.Tyr1053Ser
NM_001141974.3:c.3041A>C	NP_001135446.1:p.Tyr1014Ser