Canonical Allele Identifier: CA338232820

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986509-A-G
• MyVariant Identifiers: chr1:g.17313004A>G (hg19) ; chr1:g.16986509A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986509A>G , CM000663.2:g.16986509A>G	GRCh38
NC_000001.10:g.17313004A>G , CM000663.1:g.17313004A>G	GRCh37
NC_000001.9:g.17185591A>G	NCBI36
NG_009054.1:g.30420T>C
NG_029688.1:g.78T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3359T>C MANE Select	ENSP00000327214.8:p.Leu1120Pro
ENST00000326735.12:c.3359T>C	ENSP00000327214.8:p.Leu1120Pro
ENST00000341676.9:c.3104-151T>C	ENSP00000341115.5:n.3104-151T>C
ENST00000452699.5:c.3344T>C	ENSP00000413307.1:p.Leu1115Pro
ENST00000466561.1:n.1405T>C
ENST00000502418.1:c.824-151T>C	ENSP00000423065.1:n.824-151T>C
NM_001141973.2:c.3344T>C	NP_001135445.1:p.Leu1115Pro
NM_001141974.2:c.3104-151T>C	NP_001135446.1:n.3104-151T>C
NM_022089.3:c.3359T>C	NP_071372.1:p.Leu1120Pro
XM_005245809.1:c.3236-151T>C	XP_005245866.1:n.3236-151T>C
XM_005245810.1:c.3233-151T>C	XP_005245867.1:n.3233-151T>C
XM_005245811.1:c.3221-151T>C	XP_005245868.1:n.3221-151T>C
XM_005245812.1:c.3209-151T>C	XP_005245869.1:n.3209-151T>C
XM_005245813.1:c.3176-151T>C	XP_005245870.1:n.3176-151T>C
XM_005245815.1:c.3119-151T>C	XP_005245872.1:n.3119-151T>C
XM_006710512.1:c.3218-151T>C	XP_006710575.1:n.3218-151T>C
XM_006710513.1:c.3194-151T>C	XP_006710576.1:n.3194-151T>C
XM_011541128.1:c.3221-151T>C	XP_011539430.1:n.3221-151T>C
XM_011541129.1:c.3029-151T>C	XP_011539431.1:n.3029-151T>C
XM_017000844.1:c.3344T>C	XP_016856333.1:p.Leu1115Pro
XM_017000845.1:c.3341T>C	XP_016856334.1:p.Leu1114Pro
XM_017000846.1:c.3317T>C	XP_016856335.1:p.Leu1106Pro
XM_017000847.1:c.3314T>C	XP_016856336.1:p.Leu1105Pro
XM_017000848.1:c.3242T>C	XP_016856337.1:p.Leu1081Pro
XM_017000849.1:c.3227T>C	XP_016856338.1:p.Leu1076Pro
XM_017000850.1:c.3152T>C	XP_016856339.1:p.Leu1051Pro
NM_022089.4:c.3359T>C MANE Select	NP_071372.1:p.Leu1120Pro
NM_001141973.3:c.3344T>C	NP_001135445.1:p.Leu1115Pro
NM_001141974.3:c.3104-151T>C	NP_001135446.1:n.3104-151T>C