Canonical Allele Identifier: CA148417

Gene: ATP6AP2

Linked Data

• ClinVar Variation Id: 95311
• ClinVar RCV Id: RCV000081328 ; RCV000549577 ; RCV001580131 ; RCV002316249
• dbSNP Id: rs9014
• ExAC: X:40450585 C / G
• gnomAD v2: X-40450585-C-G
• gnomAD v3: X-40591333-C-G
• gnomAD v4: X-40591333-C-G
• MyVariant Identifiers: chrX:g.40450585C>G (hg19) ; chrX:g.40591333C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.40591333C>G , CM000685.2:g.40591333C>G	GRCh38
NC_000023.10:g.40450585C>G , CM000685.1:g.40450585C>G	GRCh37
NC_000023.9:g.40335529C>G	NCBI36
NG_008874.1:g.15370C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378438.9:c.268C>G	ENSP00000367697.5:p.Pro90Ala
ENST00000423649.2:c.268C>G	ENSP00000410105.2:p.Pro90Ala
ENST00000436783.6:c.121C>G	ENSP00000403969.2:p.Pro41Ala
ENST00000447485.6:c.268C>G	ENSP00000411317.2:p.Pro90Ala
ENST00000486558.6:c.40C>G	ENSP00000490706.1:p.Pro14Ala
ENST00000487051.2:n.434C>G
ENST00000635734.1:c.40C>G	ENSP00000489653.1:p.Pro14Ala
ENST00000635774.1:c.268C>G	ENSP00000490733.1:p.Pro90Ala
ENST00000635829.1:n.75C>G
ENST00000636196.1:c.268C>G	ENSP00000490675.1:p.Pro90Ala
ENST00000636251.1:c.40C>G	ENSP00000489920.1:p.Pro14Ala
ENST00000636287.1:c.268C>G	ENSP00000490452.1:p.Pro90Ala
ENST00000636409.1:c.268C>G	ENSP00000489819.1:p.Pro90Ala
ENST00000636574.1:c.268C>G	ENSP00000490345.1:p.Pro90Ala
ENST00000636580.2:c.268C>G MANE Select	ENSP00000490083.1:p.Pro90Ala
ENST00000636639.1:c.268C>G	ENSP00000490382.1:p.Pro90Ala
ENST00000636787.1:c.268C>G	ENSP00000490954.1:p.Pro90Ala
ENST00000636970.1:c.40C>G	ENSP00000490462.1:p.Pro14Ala
ENST00000637327.1:c.40C>G	ENSP00000490558.1:p.Pro14Ala
ENST00000637482.1:c.40C>G	ENSP00000490532.1:p.Pro14Ala
ENST00000637526.1:c.121C>G	ENSP00000489845.1:p.Pro41Ala
ENST00000637614.1:c.64C>G	ENSP00000490884.1:p.Pro22Ala
ENST00000637954.1:n.2456C>G
ENST00000637955.1:c.219C>G
ENST00000638153.1:c.268C>G	ENSP00000490239.1:p.Pro90Ala
ENST00000378438.8:c.268C>G	ENSP00000367697.4:p.Pro90Ala
ENST00000423649.1:c.323C>G
ENST00000436783.5:c.364C>G	ENSP00000403969.1:p.Pro122Ala
ENST00000447485.5:c.192C>G
ENST00000486558.5:n.221C>G
ENST00000487051.1:n.224C>G
NM_005765.2:c.268C>G	NP_005756.2:p.Pro90Ala
NM_005765.3:c.268C>G MANE Select	NP_005756.2:p.Pro90Ala