Canonical Allele Identifier: CA338232437

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312814G>T (hg19) ; chr1:g.16986319G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986319G>T , CM000663.2:g.16986319G>T	GRCh38
NC_000001.10:g.17312814G>T , CM000663.1:g.17312814G>T	GRCh37
NC_000001.9:g.17185401G>T	NCBI36
NG_009054.1:g.30610C>A
NG_029688.1:g.268C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3445C>A MANE Select	ENSP00000327214.8:p.Leu1149Ile
ENST00000326735.12:c.3445C>A	ENSP00000327214.8:p.Leu1149Ile
ENST00000341676.9:c.3143C>A	ENSP00000341115.5:p.Pro1048His
ENST00000452699.5:c.3430C>A	ENSP00000413307.1:p.Leu1144Ile
ENST00000466561.1:n.1491C>A
ENST00000502418.1:c.863C>A	ENSP00000423065.1:p.Pro288His
NM_001141973.2:c.3430C>A	NP_001135445.1:p.Leu1144Ile
NM_001141974.2:c.3143C>A	NP_001135446.1:p.Pro1048His
NM_022089.3:c.3445C>A	NP_071372.1:p.Leu1149Ile
XM_005245809.1:c.3275C>A	XP_005245866.1:p.Pro1092His
XM_005245810.1:c.3272C>A	XP_005245867.1:p.Pro1091His
XM_005245811.1:c.3260C>A	XP_005245868.1:p.Pro1087His
XM_005245812.1:c.3248C>A	XP_005245869.1:p.Pro1083His
XM_005245813.1:c.3215C>A	XP_005245870.1:p.Pro1072His
XM_005245815.1:c.3158C>A	XP_005245872.1:p.Pro1053His
XM_006710512.1:c.3257C>A	XP_006710575.1:p.Pro1086His
XM_006710513.1:c.3233C>A	XP_006710576.1:p.Pro1078His
XM_011541128.1:c.3260C>A	XP_011539430.1:p.Pro1087His
XM_011541129.1:c.3068C>A	XP_011539431.1:p.Pro1023His
XM_017000844.1:c.3430C>A	XP_016856333.1:p.Leu1144Ile
XM_017000845.1:c.3427C>A	XP_016856334.1:p.Leu1143Ile
XM_017000846.1:c.3403C>A	XP_016856335.1:p.Leu1135Ile
XM_017000847.1:c.3400C>A	XP_016856336.1:p.Leu1134Ile
XM_017000848.1:c.3328C>A	XP_016856337.1:p.Leu1110Ile
XM_017000849.1:c.3313C>A	XP_016856338.1:p.Leu1105Ile
XM_017000850.1:c.3238C>A	XP_016856339.1:p.Leu1080Ile
NM_022089.4:c.3445C>A MANE Select	NP_071372.1:p.Leu1149Ile
NM_001141973.3:c.3430C>A	NP_001135445.1:p.Leu1144Ile
NM_001141974.3:c.3143C>A	NP_001135446.1:p.Pro1048His