Canonical Allele Identifier: CA2614925

Gene: ATP2C1

Linked Data

• ClinVar Variation Id: 343324
• ClinVar RCV Id: RCV000381408
• dbSNP Id: rs200665127
• ExAC: 3:130674973 G / A
• gnomAD v2: 3-130674973-G-A
• gnomAD v3: 3-130956129-G-A
• gnomAD v4: 3-130956129-G-A
• MyVariant Identifiers: chr3:g.130674973G>A (hg19) ; chr3:g.130956129G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.130956129G>A , CM000665.2:g.130956129G>A	GRCh38
NC_000003.11:g.130674973G>A , CM000665.1:g.130674973G>A	GRCh37
NC_000003.10:g.132157663G>A	NCBI36
NG_007379.1:g.66540G>A
NG_007379.2:g.110605G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510168.6:c.782G>A MANE Select	ENSP00000427461.1:p.Ser261Asn
ENST00000328560.12:c.782G>A	ENSP00000329664.8:p.Ser261Asn
ENST00000359644.7:c.782G>A	ENSP00000352665.3:p.Ser261Asn
ENST00000422190.6:c.782G>A	ENSP00000402677.2:p.Ser261Asn
ENST00000428331.6:c.782G>A	ENSP00000395809.2:p.Ser261Asn
ENST00000504381.5:c.767G>A	ENSP00000425320.2:p.Ser256Asn
ENST00000504612.5:c.643G>A
ENST00000504948.5:c.734G>A	ENSP00000423330.1:p.Ser245Asn
ENST00000505330.5:c.884G>A	ENSP00000423774.2:p.Ser295Asn
ENST00000507488.6:c.884G>A	ENSP00000421326.3:p.Ser295Asn
ENST00000508532.5:c.782G>A	ENSP00000424783.1:p.Ser261Asn
ENST00000510168.5:c.782G>A	ENSP00000427461.1:p.Ser261Asn
ENST00000513636.1:n.233G>A
ENST00000513801.5:c.734G>A	ENSP00000422872.1:p.Ser245Asn
ENST00000515854.5:c.-2G>A	ENSP00000422890.1:n.-2G>A
ENST00000533801.6:c.782G>A	ENSP00000432956.3:p.Ser261Asn
NM_001001485.2:c.782G>A	NP_001001485.1:p.Ser261Asn
NM_001001486.1:c.782G>A	NP_001001486.1:p.Ser261Asn
NM_001001487.1:c.782G>A	NP_001001487.1:p.Ser261Asn
NM_001199179.1:c.782G>A	NP_001186108.1:p.Ser261Asn
NM_001199180.1:c.884G>A	NP_001186109.1:p.Ser295Asn
NM_001199181.1:c.884G>A	NP_001186110.1:p.Ser295Asn
NM_001199182.1:c.767G>A	NP_001186111.1:p.Ser256Asn
NM_001199183.1:c.734G>A	NP_001186112.1:p.Ser245Asn
NM_001199184.1:c.734G>A	NP_001186113.1:p.Ser245Asn
NM_001199185.1:c.782G>A	NP_001186114.1:p.Ser261Asn
NM_014382.3:c.782G>A	NP_055197.2:p.Ser261Asn
XM_005247354.1:c.884G>A	XP_005247411.1:p.Ser295Asn
XM_005247355.1:c.782G>A	XP_005247412.1:p.Ser261Asn
XM_005247356.1:c.782G>A	XP_005247413.1:p.Ser261Asn
XM_005247357.1:c.782G>A	XP_005247414.1:p.Ser261Asn
XM_005247358.1:c.734G>A	XP_005247415.1:p.Ser245Asn
XM_006713585.1:c.782G>A	XP_006713648.1:p.Ser261Asn
XM_011512685.1:c.884G>A	XP_011510987.1:p.Ser295Asn
XM_011512687.1:c.884G>A	XP_011510989.1:p.Ser295Asn
XM_005247354.2:c.884G>A	XP_005247411.1:p.Ser295Asn
XM_005247355.2:c.782G>A	XP_005247412.1:p.Ser261Asn
XM_005247356.3:c.782G>A	XP_005247413.1:p.Ser261Asn
XM_005247358.3:c.734G>A	XP_005247415.1:p.Ser245Asn
XM_017006164.2:c.782G>A	XP_016861653.1:p.Ser261Asn
NM_001199179.2:c.782G>A	NP_001186108.1:p.Ser261Asn
NM_001199180.2:c.884G>A	NP_001186109.1:p.Ser295Asn
NM_001199181.2:c.884G>A	NP_001186110.1:p.Ser295Asn
NM_001199182.2:c.767G>A	NP_001186111.1:p.Ser256Asn
NM_001199183.2:c.734G>A	NP_001186112.1:p.Ser245Asn
NM_001199184.2:c.734G>A	NP_001186113.1:p.Ser245Asn
NM_001199185.2:c.782G>A	NP_001186114.1:p.Ser261Asn
NM_014382.4:c.782G>A	NP_055197.2:p.Ser261Asn
NM_001001485.3:c.782G>A	NP_001001485.1:p.Ser261Asn
NM_001001486.2:c.782G>A	NP_001001486.1:p.Ser261Asn
NM_001001487.2:c.782G>A	NP_001001487.1:p.Ser261Asn
NM_001199179.3:c.782G>A	NP_001186108.1:p.Ser261Asn
NM_001199181.3:c.884G>A	NP_001186110.1:p.Ser295Asn
NM_001199184.3:c.734G>A	NP_001186113.1:p.Ser245Asn
NM_001378511.1:c.884G>A	NP_001365440.1:p.Ser295Asn
NM_001378512.1:c.782G>A	NP_001365441.1:p.Ser261Asn
NM_001378513.1:c.782G>A	NP_001365442.1:p.Ser261Asn
NM_001378514.1:c.734G>A	NP_001365443.1:p.Ser245Asn
NM_001378687.1:c.782G>A MANE Select	NP_001365616.1:p.Ser261Asn
NM_014382.5:c.782G>A	NP_055197.2:p.Ser261Asn