Canonical Allele Identifier: CA636480

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 1912256
• ClinVar RCV Id: RCV002600739
• dbSNP Id: rs766073047
• ExAC: 1:17312811 G / A
• gnomAD v2: 1-17312811-G-A
• gnomAD v3: 1-16986316-G-A
• gnomAD v4: 1-16986316-G-A
• COSMIC: COSM4827717 ; COSM4827718
• MyVariant Identifiers: chr1:g.17312811G>A (hg19) ; chr1:g.16986316G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986316G>A , CM000663.2:g.16986316G>A	GRCh38
NC_000001.10:g.17312811G>A , CM000663.1:g.17312811G>A	GRCh37
NC_000001.9:g.17185398G>A	NCBI36
NG_009054.1:g.30613C>T
NG_029688.1:g.271C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3448C>T MANE Select	ENSP00000327214.8:p.Arg1150Trp
ENST00000326735.12:c.3448C>T	ENSP00000327214.8:p.Arg1150Trp
ENST00000341676.9:c.3146C>T	ENSP00000341115.5:p.Pro1049Leu
ENST00000452699.5:c.3433C>T	ENSP00000413307.1:p.Arg1145Trp
ENST00000466561.1:n.1494C>T
ENST00000502418.1:c.866C>T	ENSP00000423065.1:p.Pro289Leu
NM_001141973.2:c.3433C>T	NP_001135445.1:p.Arg1145Trp
NM_001141974.2:c.3146C>T	NP_001135446.1:p.Pro1049Leu
NM_022089.3:c.3448C>T	NP_071372.1:p.Arg1150Trp
XM_005245809.1:c.3278C>T	XP_005245866.1:p.Pro1093Leu
XM_005245810.1:c.3275C>T	XP_005245867.1:p.Pro1092Leu
XM_005245811.1:c.3263C>T	XP_005245868.1:p.Pro1088Leu
XM_005245812.1:c.3251C>T	XP_005245869.1:p.Pro1084Leu
XM_005245813.1:c.3218C>T	XP_005245870.1:p.Pro1073Leu
XM_005245815.1:c.3161C>T	XP_005245872.1:p.Pro1054Leu
XM_006710512.1:c.3260C>T	XP_006710575.1:p.Pro1087Leu
XM_006710513.1:c.3236C>T	XP_006710576.1:p.Pro1079Leu
XM_011541128.1:c.3263C>T	XP_011539430.1:p.Pro1088Leu
XM_011541129.1:c.3071C>T	XP_011539431.1:p.Pro1024Leu
XM_017000844.1:c.3433C>T	XP_016856333.1:p.Arg1145Trp
XM_017000845.1:c.3430C>T	XP_016856334.1:p.Arg1144Trp
XM_017000846.1:c.3406C>T	XP_016856335.1:p.Arg1136Trp
XM_017000847.1:c.3403C>T	XP_016856336.1:p.Arg1135Trp
XM_017000848.1:c.3331C>T	XP_016856337.1:p.Arg1111Trp
XM_017000849.1:c.3316C>T	XP_016856338.1:p.Arg1106Trp
XM_017000850.1:c.3241C>T	XP_016856339.1:p.Arg1081Trp
NM_022089.4:c.3448C>T MANE Select	NP_071372.1:p.Arg1150Trp
NM_001141973.3:c.3433C>T	NP_001135445.1:p.Arg1145Trp
NM_001141974.3:c.3146C>T	NP_001135446.1:p.Pro1049Leu