Canonical Allele Identifier: CA338232247

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312774A>G (hg19) ; chr1:g.16986279A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986279A>G , CM000663.2:g.16986279A>G	GRCh38
NC_000001.10:g.17312774A>G , CM000663.1:g.17312774A>G	GRCh37
NC_000001.9:g.17185361A>G	NCBI36
NG_009054.1:g.30650T>C
NG_029688.1:g.308T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3485T>C MANE Select	ENSP00000327214.8:p.Leu1162Pro
ENST00000326735.12:c.3485T>C	ENSP00000327214.8:p.Leu1162Pro
ENST00000341676.9:c.3183T>C	ENSP00000341115.5:p.Ala1061=
ENST00000452699.5:c.3470T>C	ENSP00000413307.1:p.Leu1157Pro
ENST00000466561.1:n.1531T>C
ENST00000502418.1:c.903T>C	ENSP00000423065.1:p.Ala301=
NM_001141973.2:c.3470T>C	NP_001135445.1:p.Leu1157Pro
NM_001141974.2:c.3183T>C	NP_001135446.1:p.Ala1061=
NM_022089.3:c.3485T>C	NP_071372.1:p.Leu1162Pro
XM_005245809.1:c.3315T>C	XP_005245866.1:p.Ala1105=
XM_005245810.1:c.3312T>C	XP_005245867.1:p.Ala1104=
XM_005245811.1:c.3300T>C	XP_005245868.1:p.Ala1100=
XM_005245812.1:c.3288T>C	XP_005245869.1:p.Ala1096=
XM_005245813.1:c.3255T>C	XP_005245870.1:p.Ala1085=
XM_005245815.1:c.3198T>C	XP_005245872.1:p.Ala1066=
XM_006710512.1:c.3297T>C	XP_006710575.1:p.Ala1099=
XM_006710513.1:c.3273T>C	XP_006710576.1:p.Ala1091=
XM_011541128.1:c.3300T>C	XP_011539430.1:p.Ala1100=
XM_011541129.1:c.3108T>C	XP_011539431.1:p.Ala1036=
XM_017000844.1:c.3470T>C	XP_016856333.1:p.Leu1157Pro
XM_017000845.1:c.3467T>C	XP_016856334.1:p.Leu1156Pro
XM_017000846.1:c.3443T>C	XP_016856335.1:p.Leu1148Pro
XM_017000847.1:c.3440T>C	XP_016856336.1:p.Leu1147Pro
XM_017000848.1:c.3368T>C	XP_016856337.1:p.Leu1123Pro
XM_017000849.1:c.3353T>C	XP_016856338.1:p.Leu1118Pro
XM_017000850.1:c.3278T>C	XP_016856339.1:p.Leu1093Pro
NM_022089.4:c.3485T>C MANE Select	NP_071372.1:p.Leu1162Pro
NM_001141973.3:c.3470T>C	NP_001135445.1:p.Leu1157Pro
NM_001141974.3:c.3183T>C	NP_001135446.1:p.Ala1061=