Canonical Allele Identifier: CA338232108

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312749G>T (hg19) ; chr1:g.16986254G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986254G>T , CM000663.2:g.16986254G>T	GRCh38
NC_000001.10:g.17312749G>T , CM000663.1:g.17312749G>T	GRCh37
NC_000001.9:g.17185336G>T	NCBI36
NG_009054.1:g.30675C>A
NG_029688.1:g.333C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3510C>A MANE Select	ENSP00000327214.8:p.Pro1170=
ENST00000326735.12:c.3510C>A	ENSP00000327214.8:p.Pro1170=
ENST00000341676.9:c.3208C>A	ENSP00000341115.5:p.Leu1070Met
ENST00000452699.5:c.3495C>A	ENSP00000413307.1:p.Pro1165=
ENST00000466561.1:n.1556C>A
ENST00000502418.1:c.928C>A	ENSP00000423065.1:p.Leu310Met
NM_001141973.2:c.3495C>A	NP_001135445.1:p.Pro1165=
NM_001141974.2:c.3208C>A	NP_001135446.1:p.Leu1070Met
NM_022089.3:c.3510C>A	NP_071372.1:p.Pro1170=
XM_005245809.1:c.3340C>A	XP_005245866.1:p.Leu1114Met
XM_005245810.1:c.3337C>A	XP_005245867.1:p.Leu1113Met
XM_005245811.1:c.3325C>A	XP_005245868.1:p.Leu1109Met
XM_005245812.1:c.3313C>A	XP_005245869.1:p.Leu1105Met
XM_005245813.1:c.3280C>A	XP_005245870.1:p.Leu1094Met
XM_005245815.1:c.3223C>A	XP_005245872.1:p.Leu1075Met
XM_006710512.1:c.3322C>A	XP_006710575.1:p.Leu1108Met
XM_006710513.1:c.3298C>A	XP_006710576.1:p.Leu1100Met
XM_011541128.1:c.3325C>A	XP_011539430.1:p.Leu1109Met
XM_011541129.1:c.3133C>A	XP_011539431.1:p.Leu1045Met
XM_017000844.1:c.3495C>A	XP_016856333.1:p.Pro1165=
XM_017000845.1:c.3492C>A	XP_016856334.1:p.Pro1164=
XM_017000846.1:c.3468C>A	XP_016856335.1:p.Pro1156=
XM_017000847.1:c.3465C>A	XP_016856336.1:p.Pro1155=
XM_017000848.1:c.3393C>A	XP_016856337.1:p.Pro1131=
XM_017000849.1:c.3378C>A	XP_016856338.1:p.Pro1126=
XM_017000850.1:c.3303C>A	XP_016856339.1:p.Pro1101=
NM_022089.4:c.3510C>A MANE Select	NP_071372.1:p.Pro1170=
NM_001141973.3:c.3495C>A	NP_001135445.1:p.Pro1165=
NM_001141974.3:c.3208C>A	NP_001135446.1:p.Leu1070Met