Canonical Allele Identifier: CA338232099

Gene: ATP13A2

Linked Data

• dbSNP Id: rs1426638809
• gnomAD v2: 1-17312747-C-G
• MyVariant Identifiers: chr1:g.17312747C>G (hg19) ; chr1:g.16986252C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986252C>G , CM000663.2:g.16986252C>G	GRCh38
NC_000001.10:g.17312747C>G , CM000663.1:g.17312747C>G	GRCh37
NC_000001.9:g.17185334C>G	NCBI36
NG_009054.1:g.30677G>C
NG_029688.1:g.335G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3512G>C MANE Select	ENSP00000327214.8:p.Trp1171Ser
ENST00000326735.12:c.3512G>C	ENSP00000327214.8:p.Trp1171Ser
ENST00000341676.9:c.3210G>C	ENSP00000341115.5:p.Leu1070=
ENST00000452699.5:c.3497G>C	ENSP00000413307.1:p.Trp1166Ser
ENST00000466561.1:n.1558G>C
ENST00000502418.1:c.930G>C	ENSP00000423065.1:p.Leu310=
NM_001141973.2:c.3497G>C	NP_001135445.1:p.Trp1166Ser
NM_001141974.2:c.3210G>C	NP_001135446.1:p.Leu1070=
NM_022089.3:c.3512G>C	NP_071372.1:p.Trp1171Ser
XM_005245809.1:c.3342G>C	XP_005245866.1:p.Leu1114=
XM_005245810.1:c.3339G>C	XP_005245867.1:p.Leu1113=
XM_005245811.1:c.3327G>C	XP_005245868.1:p.Leu1109=
XM_005245812.1:c.3315G>C	XP_005245869.1:p.Leu1105=
XM_005245813.1:c.3282G>C	XP_005245870.1:p.Leu1094=
XM_005245815.1:c.3225G>C	XP_005245872.1:p.Leu1075=
XM_006710512.1:c.3324G>C	XP_006710575.1:p.Leu1108=
XM_006710513.1:c.3300G>C	XP_006710576.1:p.Leu1100=
XM_011541128.1:c.3327G>C	XP_011539430.1:p.Leu1109=
XM_011541129.1:c.3135G>C	XP_011539431.1:p.Leu1045=
XM_017000844.1:c.3497G>C	XP_016856333.1:p.Trp1166Ser
XM_017000845.1:c.3494G>C	XP_016856334.1:p.Trp1165Ser
XM_017000846.1:c.3470G>C	XP_016856335.1:p.Trp1157Ser
XM_017000847.1:c.3467G>C	XP_016856336.1:p.Trp1156Ser
XM_017000848.1:c.3395G>C	XP_016856337.1:p.Trp1132Ser
XM_017000849.1:c.3380G>C	XP_016856338.1:p.Trp1127Ser
XM_017000850.1:c.3305G>C	XP_016856339.1:p.Trp1102Ser
NM_022089.4:c.3512G>C MANE Select	NP_071372.1:p.Trp1171Ser
NM_001141973.3:c.3497G>C	NP_001135445.1:p.Trp1166Ser
NM_001141974.3:c.3210G>C	NP_001135446.1:p.Leu1070=