Canonical Allele Identifier: CA1983711

Gene: PRKRA CHROMR

Linked Data

• ClinVar Variation Id: 1151603
• ClinVar RCV Id: RCV001492593
• dbSNP Id: rs750650286
• ExAC: 2:179296974 C / G
• gnomAD v2: 2-179296974-C-G
• gnomAD v3: 2-178432247-C-G
• gnomAD v4: 2-178432247-C-G
• MyVariant Identifiers: chr2:g.179296974C>G (hg19) ; chr2:g.178432247C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178432247C>G , CM000664.2:g.178432247C>G	GRCh38
NC_000002.11:g.179296974C>G , CM000664.1:g.179296974C>G	GRCh37
NC_000002.10:g.179005220C>G	NCBI36
NG_009053.1:g.23985G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325748.9:c.792G>C (PRKRA) MANE Select	ENSP00000318176.4:p.Leu264=
ENST00000448279.2:c.*520G>C (PRKRA)	ENSP00000388455.1:n.*520G>C
ENST00000457633.2:c.*296G>C (PRKRA)	ENSP00000408668.2:n.*296G>C
ENST00000474793.6:n.933G>C (PRKRA)
ENST00000676505.1:c.*552G>C (PRKRA)	ENSP00000504163.1:n.*552G>C
ENST00000676586.1:n.2929G>C (PRKRA)
ENST00000676752.1:n.2691G>C (PRKRA)
ENST00000676832.1:c.*613G>C (PRKRA)	ENSP00000503231.1:n.*613G>C
ENST00000676922.1:c.*520G>C (PRKRA)	ENSP00000503369.1:n.*520G>C
ENST00000677136.1:n.2784G>C (PRKRA)
ENST00000677206.1:c.*584G>C (PRKRA)	ENSP00000503034.1:n.*584G>C
ENST00000677253.1:c.*489G>C (PRKRA)	ENSP00000503466.1:n.*489G>C
ENST00000677386.1:c.*235G>C (PRKRA)	ENSP00000503003.1:n.*235G>C
ENST00000677460.1:c.*121G>C (PRKRA)	ENSP00000504507.1:n.*121G>C
ENST00000677584.1:c.*630G>C (PRKRA)	ENSP00000504411.1:n.*630G>C
ENST00000677689.1:c.537G>C (PRKRA)	ENSP00000502919.1:p.Leu179=
ENST00000677859.1:c.645G>C (PRKRA)
ENST00000677981.1:c.540G>C (PRKRA)	ENSP00000503536.1:p.Leu180=
ENST00000678053.1:c.*552G>C (PRKRA)	ENSP00000504330.1:n.*552G>C
ENST00000678058.1:c.536G>C (PRKRA)	ENSP00000503203.1:n.536G>C
ENST00000678167.1:c.*346G>C (PRKRA)	ENSP00000504479.1:n.*346G>C
ENST00000678775.1:c.453G>C (PRKRA)	ENSP00000504030.1:p.Leu151=
ENST00000678845.1:c.453G>C (PRKRA)	ENSP00000503011.1:p.Leu151=
ENST00000679037.1:c.*460G>C (PRKRA)	ENSP00000504421.1:n.*460G>C
ENST00000679202.1:n.1879G>C (PRKRA)
ENST00000325748.8:c.792G>C (PRKRA)	ENSP00000318176.4:p.Leu264=
ENST00000424699.5:c.*584G>C (PRKRA)	ENSP00000408029.1:n.*584G>C
ENST00000432031.6:c.759G>C (PRKRA)	ENSP00000393883.2:p.Leu253=
ENST00000487082.5:c.717G>C (PRKRA)	ENSP00000430604.1:p.Leu239=
ENST00000490501.5:n.1019G>C (PRKRA)
NM_001139517.1:c.759G>C (PRKRA)	NP_001132989.1:p.Leu253=
NM_001139518.1:c.717G>C (PRKRA)	NP_001132990.1:p.Leu239=
NM_001316362.1:c.453G>C (PRKRA)	NP_001303291.1:p.Leu151=
NM_003690.4:c.792G>C (PRKRA)	NP_003681.1:p.Leu264=
NR_110204.1:n.872-1135C>G (CHROMR)
NR_110205.1:n.716-1135C>G (CHROMR)
NR_110206.1:n.651-1135C>G (CHROMR)
XM_005246921.3:c.453G>C (PRKRA)	XP_005246978.1:p.Leu151=
XM_011512063.1:c.537G>C (PRKRA)	XP_011510365.1:p.Leu179=
XM_011512064.1:c.537G>C (PRKRA)	XP_011510366.1:p.Leu179=
XM_011512066.1:c.453G>C (PRKRA)	XP_011510368.1:p.Leu151=
XM_011512063.2:c.537G>C (PRKRA)	XP_011510365.1:p.Leu179=
XM_011512066.2:c.453G>C (PRKRA)	XP_011510368.1:p.Leu151=
XM_017005159.1:c.453G>C (PRKRA)	XP_016860648.1:p.Leu151=
XR_001739008.2:n.833G>C (PRKRA)
NM_003690.5:c.792G>C (PRKRA) MANE Select	NP_003681.1:p.Leu264=
NM_001316362.2:c.453G>C (PRKRA)	NP_001303291.1:p.Leu151=