Canonical Allele Identifier: CA416093691

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17313089G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986594G>A , CM000663.2:g.16986594G>A	GRCh38
NC_000001.10:g.17313089G>A , CM000663.1:g.17313089G>A	GRCh37
NC_000001.9:g.17185676G>A	NCBI36
NG_009054.1:g.30335C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3274C>T MANE Select	ENSP00000327214.8:p.Leu1092=
ENST00000326735.12:c.3274C>T	ENSP00000327214.8:p.Leu1092=
ENST00000341676.9:c.3103+211C>T	ENSP00000341115.5:n.3103+211C>T
ENST00000452699.5:c.3259C>T	ENSP00000413307.1:p.Leu1087=
ENST00000466561.1:n.1320C>T
ENST00000502418.1:c.823+211C>T	ENSP00000423065.1:n.823+211C>T
NM_001141973.2:c.3259C>T	NP_001135445.1:p.Leu1087=
NM_001141974.2:c.3103+211C>T	NP_001135446.1:n.3103+211C>T
NM_022089.3:c.3274C>T	NP_071372.1:p.Leu1092=
XM_005245809.1:c.3235+211C>T	XP_005245866.1:n.3235+211C>T
XM_005245810.1:c.3232+211C>T	XP_005245867.1:n.3232+211C>T
XM_005245811.1:c.3220+211C>T	XP_005245868.1:n.3220+211C>T
XM_005245812.1:c.3208+211C>T	XP_005245869.1:n.3208+211C>T
XM_005245813.1:c.3175+211C>T	XP_005245870.1:n.3175+211C>T
XM_005245815.1:c.3118+211C>T	XP_005245872.1:n.3118+211C>T
XM_006710512.1:c.3217+211C>T	XP_006710575.1:n.3217+211C>T
XM_006710513.1:c.3193+211C>T	XP_006710576.1:n.3193+211C>T
XM_011541128.1:c.3220+211C>T	XP_011539430.1:n.3220+211C>T
XM_011541129.1:c.3028+211C>T	XP_011539431.1:n.3028+211C>T
XM_017000844.1:c.3259C>T	XP_016856333.1:p.Leu1087=
XM_017000845.1:c.3256C>T	XP_016856334.1:p.Leu1086=
XM_017000846.1:c.3232C>T	XP_016856335.1:p.Leu1078=
XM_017000847.1:c.3229C>T	XP_016856336.1:p.Leu1077=
XM_017000848.1:c.3157C>T	XP_016856337.1:p.Leu1053=
XM_017000849.1:c.3142C>T	XP_016856338.1:p.Leu1048=
XM_017000850.1:c.3067C>T	XP_016856339.1:p.Leu1023=
NM_022089.4:c.3274C>T MANE Select	NP_071372.1:p.Leu1092=
NM_001141973.3:c.3259C>T	NP_001135445.1:p.Leu1087=
NM_001141974.3:c.3103+211C>T	NP_001135446.1:n.3103+211C>T