Canonical Allele Identifier: CA354534696

Gene: ATP2C1

Linked Data

• ClinVar Variation Id: 2734571
• ClinVar RCV Id: RCV003555105
• MyVariant Identifiers: chr3:g.130699500C>T (hg19) ; chr3:g.130980656C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.130980656C>T , CM000665.2:g.130980656C>T	GRCh38
NC_000003.11:g.130699500C>T , CM000665.1:g.130699500C>T	GRCh37
NC_000003.10:g.132182190C>T	NCBI36
NG_007379.1:g.91067C>T
NG_007379.2:g.135132C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510168.6:c.1816C>T MANE Select	ENSP00000427461.1:p.Gln606Ter
ENST00000328560.12:c.1816C>T	ENSP00000329664.8:p.Gln606Ter
ENST00000359644.7:c.1816C>T	ENSP00000352665.3:p.Gln606Ter
ENST00000422190.6:c.1816C>T	ENSP00000402677.2:p.Gln606Ter
ENST00000428331.6:c.1816C>T	ENSP00000395809.2:p.Gln606Ter
ENST00000504381.5:c.1801C>T	ENSP00000425320.2:p.Gln601Ter
ENST00000504571.5:c.631+5168C>T	ENSP00000422489.1:n.631+5168C>T
ENST00000504612.5:c.1677C>T
ENST00000504948.5:c.1768C>T	ENSP00000423330.1:p.Gln590Ter
ENST00000505330.5:c.1918C>T	ENSP00000423774.2:p.Gln640Ter
ENST00000507488.6:c.1918C>T	ENSP00000421326.3:p.Gln640Ter
ENST00000508532.5:c.1816C>T	ENSP00000424783.1:p.Gln606Ter
ENST00000508660.5:c.369C>T
ENST00000510168.5:c.1816C>T	ENSP00000427461.1:p.Gln606Ter
ENST00000510774.1:n.87C>T
ENST00000513801.5:c.1768C>T	ENSP00000422872.1:p.Gln590Ter
ENST00000514654.5:n.1986C>T
ENST00000533801.6:c.1816C>T	ENSP00000432956.3:p.Gln606Ter
NM_001001485.2:c.1816C>T	NP_001001485.1:p.Gln606Ter
NM_001001486.1:c.1816C>T	NP_001001486.1:p.Gln606Ter
NM_001001487.1:c.1816C>T	NP_001001487.1:p.Gln606Ter
NM_001199179.1:c.1816C>T	NP_001186108.1:p.Gln606Ter
NM_001199180.1:c.1918C>T	NP_001186109.1:p.Gln640Ter
NM_001199181.1:c.1918C>T	NP_001186110.1:p.Gln640Ter
NM_001199182.1:c.1801C>T	NP_001186111.1:p.Gln601Ter
NM_001199183.1:c.1768C>T	NP_001186112.1:p.Gln590Ter
NM_001199184.1:c.1768C>T	NP_001186113.1:p.Gln590Ter
NM_001199185.1:c.1816C>T	NP_001186114.1:p.Gln606Ter
NM_014382.3:c.1816C>T	NP_055197.2:p.Gln606Ter
XM_005247354.1:c.1918C>T	XP_005247411.1:p.Gln640Ter
XM_005247355.1:c.1816C>T	XP_005247412.1:p.Gln606Ter
XM_005247356.1:c.1816C>T	XP_005247413.1:p.Gln606Ter
XM_005247357.1:c.1816C>T	XP_005247414.1:p.Gln606Ter
XM_005247358.1:c.1768C>T	XP_005247415.1:p.Gln590Ter
XM_006713585.1:c.1816C>T	XP_006713648.1:p.Gln606Ter
XM_011512685.1:c.1747C>T	XP_011510987.1:p.Gln583Ter
XM_011512686.1:c.982C>T	XP_011510988.1:p.Gln328Ter
XM_011512687.1:c.1672+5168C>T	XP_011510989.1:n.1672+5168C>T
XM_005247354.2:c.1918C>T	XP_005247411.1:p.Gln640Ter
XM_005247355.2:c.1816C>T	XP_005247412.1:p.Gln606Ter
XM_005247356.3:c.1816C>T	XP_005247413.1:p.Gln606Ter
XM_005247358.3:c.1768C>T	XP_005247415.1:p.Gln590Ter
XM_011512686.2:c.982C>T	XP_011510988.1:p.Gln328Ter
XM_017006164.2:c.1816C>T	XP_016861653.1:p.Gln606Ter
NM_001199179.2:c.1816C>T	NP_001186108.1:p.Gln606Ter
NM_001199180.2:c.1918C>T	NP_001186109.1:p.Gln640Ter
NM_001199181.2:c.1918C>T	NP_001186110.1:p.Gln640Ter
NM_001199182.2:c.1801C>T	NP_001186111.1:p.Gln601Ter
NM_001199183.2:c.1768C>T	NP_001186112.1:p.Gln590Ter
NM_001199184.2:c.1768C>T	NP_001186113.1:p.Gln590Ter
NM_001199185.2:c.1816C>T	NP_001186114.1:p.Gln606Ter
NM_014382.4:c.1816C>T	NP_055197.2:p.Gln606Ter
NM_001001485.3:c.1816C>T	NP_001001485.1:p.Gln606Ter
NM_001001486.2:c.1816C>T	NP_001001486.1:p.Gln606Ter
NM_001001487.2:c.1816C>T	NP_001001487.1:p.Gln606Ter
NM_001199179.3:c.1816C>T	NP_001186108.1:p.Gln606Ter
NM_001199181.3:c.1918C>T	NP_001186110.1:p.Gln640Ter
NM_001199184.3:c.1768C>T	NP_001186113.1:p.Gln590Ter
NM_001378511.1:c.1918C>T	NP_001365440.1:p.Gln640Ter
NM_001378512.1:c.1816C>T	NP_001365441.1:p.Gln606Ter
NM_001378513.1:c.1816C>T	NP_001365442.1:p.Gln606Ter
NM_001378514.1:c.1768C>T	NP_001365443.1:p.Gln590Ter
NM_001378687.1:c.1816C>T MANE Select	NP_001365616.1:p.Gln606Ter
NM_014382.5:c.1816C>T	NP_055197.2:p.Gln606Ter