Canonical Allele Identifier: CA338232106

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312748A>G (hg19) ; chr1:g.16986253A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986253A>G , CM000663.2:g.16986253A>G	GRCh38
NC_000001.10:g.17312748A>G , CM000663.1:g.17312748A>G	GRCh37
NC_000001.9:g.17185335A>G	NCBI36
NG_009054.1:g.30676T>C
NG_029688.1:g.334T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3511T>C MANE Select	ENSP00000327214.8:p.Trp1171Arg
ENST00000326735.12:c.3511T>C	ENSP00000327214.8:p.Trp1171Arg
ENST00000341676.9:c.3209T>C	ENSP00000341115.5:p.Leu1070Pro
ENST00000452699.5:c.3496T>C	ENSP00000413307.1:p.Trp1166Arg
ENST00000466561.1:n.1557T>C
ENST00000502418.1:c.929T>C	ENSP00000423065.1:p.Leu310Pro
NM_001141973.2:c.3496T>C	NP_001135445.1:p.Trp1166Arg
NM_001141974.2:c.3209T>C	NP_001135446.1:p.Leu1070Pro
NM_022089.3:c.3511T>C	NP_071372.1:p.Trp1171Arg
XM_005245809.1:c.3341T>C	XP_005245866.1:p.Leu1114Pro
XM_005245810.1:c.3338T>C	XP_005245867.1:p.Leu1113Pro
XM_005245811.1:c.3326T>C	XP_005245868.1:p.Leu1109Pro
XM_005245812.1:c.3314T>C	XP_005245869.1:p.Leu1105Pro
XM_005245813.1:c.3281T>C	XP_005245870.1:p.Leu1094Pro
XM_005245815.1:c.3224T>C	XP_005245872.1:p.Leu1075Pro
XM_006710512.1:c.3323T>C	XP_006710575.1:p.Leu1108Pro
XM_006710513.1:c.3299T>C	XP_006710576.1:p.Leu1100Pro
XM_011541128.1:c.3326T>C	XP_011539430.1:p.Leu1109Pro
XM_011541129.1:c.3134T>C	XP_011539431.1:p.Leu1045Pro
XM_017000844.1:c.3496T>C	XP_016856333.1:p.Trp1166Arg
XM_017000845.1:c.3493T>C	XP_016856334.1:p.Trp1165Arg
XM_017000846.1:c.3469T>C	XP_016856335.1:p.Trp1157Arg
XM_017000847.1:c.3466T>C	XP_016856336.1:p.Trp1156Arg
XM_017000848.1:c.3394T>C	XP_016856337.1:p.Trp1132Arg
XM_017000849.1:c.3379T>C	XP_016856338.1:p.Trp1127Arg
XM_017000850.1:c.3304T>C	XP_016856339.1:p.Trp1102Arg
NM_022089.4:c.3511T>C MANE Select	NP_071372.1:p.Trp1171Arg
NM_001141973.3:c.3496T>C	NP_001135445.1:p.Trp1166Arg
NM_001141974.3:c.3209T>C	NP_001135446.1:p.Leu1070Pro