Canonical Allele Identifier: CA18624748

Gene: ATP13A2

Linked Data

• dbSNP Id: rs1009436147
• gnomAD v2: 1-17312803-C-G
• gnomAD v3: 1-16986308-C-G
• gnomAD v4: 1-16986308-C-G
• MyVariant Identifiers: chr1:g.17312803C>G (hg19) ; chr1:g.16986308C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986308C>G , CM000663.2:g.16986308C>G	GRCh38
NC_000001.10:g.17312803C>G , CM000663.1:g.17312803C>G	GRCh37
NC_000001.9:g.17185390C>G	NCBI36
NG_009054.1:g.30621G>C
NG_029688.1:g.279G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3456G>C MANE Select	ENSP00000327214.8:p.Lys1152Asn
ENST00000326735.12:c.3456G>C	ENSP00000327214.8:p.Lys1152Asn
ENST00000341676.9:c.3154G>C	ENSP00000341115.5:p.Ala1052Pro
ENST00000452699.5:c.3441G>C	ENSP00000413307.1:p.Lys1147Asn
ENST00000466561.1:n.1502G>C
ENST00000502418.1:c.874G>C	ENSP00000423065.1:p.Ala292Pro
NM_001141973.2:c.3441G>C	NP_001135445.1:p.Lys1147Asn
NM_001141974.2:c.3154G>C	NP_001135446.1:p.Ala1052Pro
NM_022089.3:c.3456G>C	NP_071372.1:p.Lys1152Asn
XM_005245809.1:c.3286G>C	XP_005245866.1:p.Ala1096Pro
XM_005245810.1:c.3283G>C	XP_005245867.1:p.Ala1095Pro
XM_005245811.1:c.3271G>C	XP_005245868.1:p.Ala1091Pro
XM_005245812.1:c.3259G>C	XP_005245869.1:p.Ala1087Pro
XM_005245813.1:c.3226G>C	XP_005245870.1:p.Ala1076Pro
XM_005245815.1:c.3169G>C	XP_005245872.1:p.Ala1057Pro
XM_006710512.1:c.3268G>C	XP_006710575.1:p.Ala1090Pro
XM_006710513.1:c.3244G>C	XP_006710576.1:p.Ala1082Pro
XM_011541128.1:c.3271G>C	XP_011539430.1:p.Ala1091Pro
XM_011541129.1:c.3079G>C	XP_011539431.1:p.Ala1027Pro
XM_017000844.1:c.3441G>C	XP_016856333.1:p.Lys1147Asn
XM_017000845.1:c.3438G>C	XP_016856334.1:p.Lys1146Asn
XM_017000846.1:c.3414G>C	XP_016856335.1:p.Lys1138Asn
XM_017000847.1:c.3411G>C	XP_016856336.1:p.Lys1137Asn
XM_017000848.1:c.3339G>C	XP_016856337.1:p.Lys1113Asn
XM_017000849.1:c.3324G>C	XP_016856338.1:p.Lys1108Asn
XM_017000850.1:c.3249G>C	XP_016856339.1:p.Lys1083Asn
NM_022089.4:c.3456G>C MANE Select	NP_071372.1:p.Lys1152Asn
NM_001141973.3:c.3441G>C	NP_001135445.1:p.Lys1147Asn
NM_001141974.3:c.3154G>C	NP_001135446.1:p.Ala1052Pro