Canonical Allele Identifier: CA338233603

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986886-A-G
• MyVariant Identifiers: chr1:g.17313381A>G (hg19) ; chr1:g.16986886A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986886A>G , CM000663.2:g.16986886A>G	GRCh38
NC_000001.10:g.17313381A>G , CM000663.1:g.17313381A>G	GRCh37
NC_000001.9:g.17185968A>G	NCBI36
NG_009054.1:g.30043T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3154T>C MANE Select	ENSP00000327214.8:p.Ser1052Pro
ENST00000326735.12:c.3154T>C	ENSP00000327214.8:p.Ser1052Pro
ENST00000341676.9:c.3022T>C	ENSP00000341115.5:p.Ser1008Pro
ENST00000452699.5:c.3139T>C	ENSP00000413307.1:p.Ser1047Pro
ENST00000466561.1:n.1028T>C
ENST00000502418.1:c.742T>C	ENSP00000423065.1:p.Ser248Pro
NM_001141973.2:c.3139T>C	NP_001135445.1:p.Ser1047Pro
NM_001141974.2:c.3022T>C	NP_001135446.1:p.Ser1008Pro
NM_022089.3:c.3154T>C	NP_071372.1:p.Ser1052Pro
XM_005245809.1:c.3154T>C	XP_005245866.1:p.Ser1052Pro
XM_005245810.1:c.3151T>C	XP_005245867.1:p.Ser1051Pro
XM_005245811.1:c.3139T>C	XP_005245868.1:p.Ser1047Pro
XM_005245812.1:c.3127T>C	XP_005245869.1:p.Ser1043Pro
XM_005245813.1:c.3094T>C	XP_005245870.1:p.Ser1032Pro
XM_005245815.1:c.3037T>C	XP_005245872.1:p.Ser1013Pro
XM_006710512.1:c.3136T>C	XP_006710575.1:p.Ser1046Pro
XM_006710513.1:c.3112T>C	XP_006710576.1:p.Ser1038Pro
XM_011541128.1:c.3139T>C	XP_011539430.1:p.Ser1047Pro
XM_011541129.1:c.2947T>C	XP_011539431.1:p.Ser983Pro
XM_017000844.1:c.3139T>C	XP_016856333.1:p.Ser1047Pro
XM_017000845.1:c.3136T>C	XP_016856334.1:p.Ser1046Pro
XM_017000846.1:c.3112T>C	XP_016856335.1:p.Ser1038Pro
XM_017000847.1:c.3109T>C	XP_016856336.1:p.Ser1037Pro
XM_017000848.1:c.3037T>C	XP_016856337.1:p.Ser1013Pro
XM_017000849.1:c.3022T>C	XP_016856338.1:p.Ser1008Pro
XM_017000850.1:c.2947T>C	XP_016856339.1:p.Ser983Pro
NM_022089.4:c.3154T>C MANE Select	NP_071372.1:p.Ser1052Pro
NM_001141973.3:c.3139T>C	NP_001135445.1:p.Ser1047Pro
NM_001141974.3:c.3022T>C	NP_001135446.1:p.Ser1008Pro