Canonical Allele Identifier: CA637300

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 1355002
• ClinVar RCV Id: RCV001887937
• dbSNP Id: rs778964823
• ExAC: 1:17322892 A / G
• gnomAD v2: 1-17322892-A-G
• gnomAD v3: 1-16996397-A-G
• gnomAD v4: 1-16996397-A-G
• MyVariant Identifiers: chr1:g.17322892A>G (hg19) ; chr1:g.16996397A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996397A>G , CM000663.2:g.16996397A>G	GRCh38
NC_000001.10:g.17322892A>G , CM000663.1:g.17322892A>G	GRCh37
NC_000001.9:g.17195479A>G	NCBI36
NG_009054.1:g.20532T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1295T>C MANE Select	ENSP00000327214.8:p.Leu432Pro
ENST00000326735.12:c.1295T>C	ENSP00000327214.8:p.Leu432Pro
ENST00000341676.9:c.1280T>C	ENSP00000341115.5:p.Leu427Pro
ENST00000452699.5:c.1280T>C	ENSP00000413307.1:p.Leu427Pro
ENST00000463860.5:n.903T>C
ENST00000502860.1:n.335-97T>C
ENST00000506174.5:c.437T>C	ENSP00000424393.1:p.Leu146Pro
ENST00000509392.1:n.298T>C
ENST00000617114.4:c.335-97T>C	ENSP00000478781.1:n.335-97T>C
NM_001141973.2:c.1280T>C	NP_001135445.1:p.Leu427Pro
NM_001141974.2:c.1280T>C	NP_001135446.1:p.Leu427Pro
NM_022089.3:c.1295T>C	NP_071372.1:p.Leu432Pro
XM_005245809.1:c.1295T>C	XP_005245866.1:p.Leu432Pro
XM_005245810.1:c.1292T>C	XP_005245867.1:p.Leu431Pro
XM_005245811.1:c.1280T>C	XP_005245868.1:p.Leu427Pro
XM_005245812.1:c.1268T>C	XP_005245869.1:p.Leu423Pro
XM_005245813.1:c.1295T>C	XP_005245870.1:p.Leu432Pro
XM_005245815.1:c.1295T>C	XP_005245872.1:p.Leu432Pro
XM_006710512.1:c.1277T>C	XP_006710575.1:p.Leu426Pro
XM_006710513.1:c.1253T>C	XP_006710576.1:p.Leu418Pro
XM_011541128.1:c.1295T>C	XP_011539430.1:p.Leu432Pro
XM_011541129.1:c.1295T>C	XP_011539431.1:p.Leu432Pro
XM_017000844.1:c.1295T>C	XP_016856333.1:p.Leu432Pro
XM_017000845.1:c.1277T>C	XP_016856334.1:p.Leu426Pro
XM_017000846.1:c.1253T>C	XP_016856335.1:p.Leu418Pro
XM_017000847.1:c.1265T>C	XP_016856336.1:p.Leu422Pro
XM_017000848.1:c.1295T>C	XP_016856337.1:p.Leu432Pro
XM_017000849.1:c.1280T>C	XP_016856338.1:p.Leu427Pro
XM_017000850.1:c.1295T>C	XP_016856339.1:p.Leu432Pro
NM_022089.4:c.1295T>C MANE Select	NP_071372.1:p.Leu432Pro
NM_001141973.3:c.1280T>C	NP_001135445.1:p.Leu427Pro
NM_001141974.3:c.1280T>C	NP_001135446.1:p.Leu427Pro