Canonical Allele Identifier: CA338232428

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312813A>T (hg19) ; chr1:g.16986318A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986318A>T , CM000663.2:g.16986318A>T	GRCh38
NC_000001.10:g.17312813A>T , CM000663.1:g.17312813A>T	GRCh37
NC_000001.9:g.17185400A>T	NCBI36
NG_009054.1:g.30611T>A
NG_029688.1:g.269T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3446T>A MANE Select	ENSP00000327214.8:p.Leu1149His
ENST00000326735.12:c.3446T>A	ENSP00000327214.8:p.Leu1149His
ENST00000341676.9:c.3144T>A	ENSP00000341115.5:p.Pro1048=
ENST00000452699.5:c.3431T>A	ENSP00000413307.1:p.Leu1144His
ENST00000466561.1:n.1492T>A
ENST00000502418.1:c.864T>A	ENSP00000423065.1:p.Pro288=
NM_001141973.2:c.3431T>A	NP_001135445.1:p.Leu1144His
NM_001141974.2:c.3144T>A	NP_001135446.1:p.Pro1048=
NM_022089.3:c.3446T>A	NP_071372.1:p.Leu1149His
XM_005245809.1:c.3276T>A	XP_005245866.1:p.Pro1092=
XM_005245810.1:c.3273T>A	XP_005245867.1:p.Pro1091=
XM_005245811.1:c.3261T>A	XP_005245868.1:p.Pro1087=
XM_005245812.1:c.3249T>A	XP_005245869.1:p.Pro1083=
XM_005245813.1:c.3216T>A	XP_005245870.1:p.Pro1072=
XM_005245815.1:c.3159T>A	XP_005245872.1:p.Pro1053=
XM_006710512.1:c.3258T>A	XP_006710575.1:p.Pro1086=
XM_006710513.1:c.3234T>A	XP_006710576.1:p.Pro1078=
XM_011541128.1:c.3261T>A	XP_011539430.1:p.Pro1087=
XM_011541129.1:c.3069T>A	XP_011539431.1:p.Pro1023=
XM_017000844.1:c.3431T>A	XP_016856333.1:p.Leu1144His
XM_017000845.1:c.3428T>A	XP_016856334.1:p.Leu1143His
XM_017000846.1:c.3404T>A	XP_016856335.1:p.Leu1135His
XM_017000847.1:c.3401T>A	XP_016856336.1:p.Leu1134His
XM_017000848.1:c.3329T>A	XP_016856337.1:p.Leu1110His
XM_017000849.1:c.3314T>A	XP_016856338.1:p.Leu1105His
XM_017000850.1:c.3239T>A	XP_016856339.1:p.Leu1080His
NM_022089.4:c.3446T>A MANE Select	NP_071372.1:p.Leu1149His
NM_001141973.3:c.3431T>A	NP_001135445.1:p.Leu1144His
NM_001141974.3:c.3144T>A	NP_001135446.1:p.Pro1048=