Canonical Allele Identifier: CA338232015

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312739G>T (hg19) ; chr1:g.16986244G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986244G>T , CM000663.2:g.16986244G>T	GRCh38
NC_000001.10:g.17312739G>T , CM000663.1:g.17312739G>T	GRCh37
NC_000001.9:g.17185326G>T	NCBI36
NG_009054.1:g.30685C>A
NG_029688.1:g.343C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3520C>A MANE Select	ENSP00000327214.8:p.Leu1174Met
ENST00000326735.12:c.3520C>A	ENSP00000327214.8:p.Leu1174Met
ENST00000341676.9:c.3218C>A	ENSP00000341115.5:p.Ala1073Asp
ENST00000452699.5:c.3505C>A	ENSP00000413307.1:p.Leu1169Met
ENST00000466561.1:n.1566C>A
ENST00000502418.1:c.938C>A	ENSP00000423065.1:p.Ala313Asp
NM_001141973.2:c.3505C>A	NP_001135445.1:p.Leu1169Met
NM_001141974.2:c.3218C>A	NP_001135446.1:p.Ala1073Asp
NM_022089.3:c.3520C>A	NP_071372.1:p.Leu1174Met
XM_005245809.1:c.3350C>A	XP_005245866.1:p.Ala1117Asp
XM_005245810.1:c.3347C>A	XP_005245867.1:p.Ala1116Asp
XM_005245811.1:c.3335C>A	XP_005245868.1:p.Ala1112Asp
XM_005245812.1:c.3323C>A	XP_005245869.1:p.Ala1108Asp
XM_005245813.1:c.3290C>A	XP_005245870.1:p.Ala1097Asp
XM_005245815.1:c.3233C>A	XP_005245872.1:p.Ala1078Asp
XM_006710512.1:c.3332C>A	XP_006710575.1:p.Ala1111Asp
XM_006710513.1:c.3308C>A	XP_006710576.1:p.Ala1103Asp
XM_011541128.1:c.3335C>A	XP_011539430.1:p.Ala1112Asp
XM_011541129.1:c.3143C>A	XP_011539431.1:p.Ala1048Asp
XM_017000844.1:c.3505C>A	XP_016856333.1:p.Leu1169Met
XM_017000845.1:c.3502C>A	XP_016856334.1:p.Leu1168Met
XM_017000846.1:c.3478C>A	XP_016856335.1:p.Leu1160Met
XM_017000847.1:c.3475C>A	XP_016856336.1:p.Leu1159Met
XM_017000848.1:c.3403C>A	XP_016856337.1:p.Leu1135Met
XM_017000849.1:c.3388C>A	XP_016856338.1:p.Leu1130Met
XM_017000850.1:c.3313C>A	XP_016856339.1:p.Leu1105Met
NM_022089.4:c.3520C>A MANE Select	NP_071372.1:p.Leu1174Met
NM_001141973.3:c.3505C>A	NP_001135445.1:p.Leu1169Met
NM_001141974.3:c.3218C>A	NP_001135446.1:p.Ala1073Asp