Canonical Allele Identifier: CA338232307

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312784A>T (hg19) ; chr1:g.16986289A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986289A>T , CM000663.2:g.16986289A>T	GRCh38
NC_000001.10:g.17312784A>T , CM000663.1:g.17312784A>T	GRCh37
NC_000001.9:g.17185371A>T	NCBI36
NG_009054.1:g.30640T>A
NG_029688.1:g.298T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3475T>A MANE Select	ENSP00000327214.8:p.Phe1159Ile
ENST00000326735.12:c.3475T>A	ENSP00000327214.8:p.Phe1159Ile
ENST00000341676.9:c.3173T>A	ENSP00000341115.5:p.Leu1058His
ENST00000452699.5:c.3460T>A	ENSP00000413307.1:p.Phe1154Ile
ENST00000466561.1:n.1521T>A
ENST00000502418.1:c.893T>A	ENSP00000423065.1:p.Leu298His
NM_001141973.2:c.3460T>A	NP_001135445.1:p.Phe1154Ile
NM_001141974.2:c.3173T>A	NP_001135446.1:p.Leu1058His
NM_022089.3:c.3475T>A	NP_071372.1:p.Phe1159Ile
XM_005245809.1:c.3305T>A	XP_005245866.1:p.Leu1102His
XM_005245810.1:c.3302T>A	XP_005245867.1:p.Leu1101His
XM_005245811.1:c.3290T>A	XP_005245868.1:p.Leu1097His
XM_005245812.1:c.3278T>A	XP_005245869.1:p.Leu1093His
XM_005245813.1:c.3245T>A	XP_005245870.1:p.Leu1082His
XM_005245815.1:c.3188T>A	XP_005245872.1:p.Leu1063His
XM_006710512.1:c.3287T>A	XP_006710575.1:p.Leu1096His
XM_006710513.1:c.3263T>A	XP_006710576.1:p.Leu1088His
XM_011541128.1:c.3290T>A	XP_011539430.1:p.Leu1097His
XM_011541129.1:c.3098T>A	XP_011539431.1:p.Leu1033His
XM_017000844.1:c.3460T>A	XP_016856333.1:p.Phe1154Ile
XM_017000845.1:c.3457T>A	XP_016856334.1:p.Phe1153Ile
XM_017000846.1:c.3433T>A	XP_016856335.1:p.Phe1145Ile
XM_017000847.1:c.3430T>A	XP_016856336.1:p.Phe1144Ile
XM_017000848.1:c.3358T>A	XP_016856337.1:p.Phe1120Ile
XM_017000849.1:c.3343T>A	XP_016856338.1:p.Phe1115Ile
XM_017000850.1:c.3268T>A	XP_016856339.1:p.Phe1090Ile
NM_022089.4:c.3475T>A MANE Select	NP_071372.1:p.Phe1159Ile
NM_001141973.3:c.3460T>A	NP_001135445.1:p.Phe1154Ile
NM_001141974.3:c.3173T>A	NP_001135446.1:p.Leu1058His