Canonical Allele Identifier: CA60965656

Gene: PRKRA CHROMR

Linked Data

• dbSNP Id: rs533650971
• gnomAD v4: 2-178436194-A-G
• MyVariant Identifiers: chr2:g.179300921A>G (hg19) ; chr2:g.178436194A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178436194A>G , CM000664.2:g.178436194A>G	GRCh38
NC_000002.11:g.179300921A>G , CM000664.1:g.179300921A>G	GRCh37
NC_000002.10:g.179009167A>G	NCBI36
NG_009053.1:g.20038T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325748.9:c.735T>C (PRKRA) MANE Select	ENSP00000318176.4:p.Leu245=
ENST00000448279.2:c.*463T>C (PRKRA)	ENSP00000388455.1:n.*463T>C
ENST00000457633.2:c.*239T>C (PRKRA)	ENSP00000408668.2:n.*239T>C
ENST00000474793.6:n.876T>C (PRKRA)
ENST00000676505.1:c.*495T>C (PRKRA)	ENSP00000504163.1:n.*495T>C
ENST00000676586.1:n.2872T>C (PRKRA)
ENST00000676752.1:n.2634T>C (PRKRA)
ENST00000676832.1:c.*556T>C (PRKRA)	ENSP00000503231.1:n.*556T>C
ENST00000676922.1:c.*463T>C (PRKRA)	ENSP00000503369.1:n.*463T>C
ENST00000677136.1:n.2727T>C (PRKRA)
ENST00000677206.1:c.*527T>C (PRKRA)	ENSP00000503034.1:n.*527T>C
ENST00000677253.1:c.*432T>C (PRKRA)	ENSP00000503466.1:n.*432T>C
ENST00000677386.1:c.*178T>C (PRKRA)	ENSP00000503003.1:n.*178T>C
ENST00000677460.1:c.*64T>C (PRKRA)	ENSP00000504507.1:n.*64T>C
ENST00000677584.1:c.*573T>C (PRKRA)	ENSP00000504411.1:n.*573T>C
ENST00000677689.1:c.480T>C (PRKRA)	ENSP00000502919.1:p.Leu160=
ENST00000677859.1:c.588T>C (PRKRA)
ENST00000677981.1:c.483T>C (PRKRA)	ENSP00000503536.1:p.Leu161=
ENST00000678053.1:c.*495T>C (PRKRA)	ENSP00000504330.1:n.*495T>C
ENST00000678058.1:c.479T>C (PRKRA)	ENSP00000503203.1:n.479T>C
ENST00000678167.1:c.*289T>C (PRKRA)	ENSP00000504479.1:n.*289T>C
ENST00000678775.1:c.396T>C (PRKRA)	ENSP00000504030.1:p.Leu132=
ENST00000678845.1:c.396T>C (PRKRA)	ENSP00000503011.1:p.Leu132=
ENST00000679037.1:c.*403T>C (PRKRA)	ENSP00000504421.1:n.*403T>C
ENST00000679202.1:n.1822T>C (PRKRA)
ENST00000325748.8:c.735T>C (PRKRA)	ENSP00000318176.4:p.Leu245=
ENST00000424699.5:c.*527T>C (PRKRA)	ENSP00000408029.1:n.*527T>C
ENST00000432031.6:c.702T>C (PRKRA)	ENSP00000393883.2:p.Leu234=
ENST00000487082.5:c.660T>C (PRKRA)	ENSP00000430604.1:p.Leu220=
ENST00000490501.5:n.962T>C (PRKRA)
NM_001139517.1:c.702T>C (PRKRA)	NP_001132989.1:p.Leu234=
NM_001139518.1:c.660T>C (PRKRA)	NP_001132990.1:p.Leu220=
NM_001316362.1:c.396T>C (PRKRA)	NP_001303291.1:p.Leu132=
NM_003690.4:c.735T>C (PRKRA)	NP_003681.1:p.Leu245=
NR_110204.1:n.966-2673A>G (CHROMR)
XM_005246921.3:c.396T>C (PRKRA)	XP_005246978.1:p.Leu132=
XM_011512063.1:c.480T>C (PRKRA)	XP_011510365.1:p.Leu160=
XM_011512064.1:c.480T>C (PRKRA)	XP_011510366.1:p.Leu160=
XM_011512066.1:c.396T>C (PRKRA)	XP_011510368.1:p.Leu132=
XM_011512063.2:c.480T>C (PRKRA)	XP_011510365.1:p.Leu160=
XM_011512066.2:c.396T>C (PRKRA)	XP_011510368.1:p.Leu132=
XM_017005159.1:c.396T>C (PRKRA)	XP_016860648.1:p.Leu132=
XR_001739008.2:n.776T>C (PRKRA)
NM_003690.5:c.735T>C (PRKRA) MANE Select	NP_003681.1:p.Leu245=
NM_001316362.2:c.396T>C (PRKRA)	NP_001303291.1:p.Leu132=