Canonical Allele Identifier: CA349399194

Gene: PRKRA CHROMR

Linked Data

• dbSNP Id: rs1696684805
• gnomAD v4: 2-178432221-A-G
• MyVariant Identifiers: chr2:g.179296948A>G (hg19) ; chr2:g.178432221A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178432221A>G , CM000664.2:g.178432221A>G	GRCh38
NC_000002.11:g.179296948A>G , CM000664.1:g.179296948A>G	GRCh37
NC_000002.10:g.179005194A>G	NCBI36
NG_009053.1:g.24011T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325748.9:c.818T>C (PRKRA) MANE Select	ENSP00000318176.4:p.Leu273Pro
ENST00000448279.2:c.*546T>C (PRKRA)	ENSP00000388455.1:n.*546T>C
ENST00000457633.2:c.*322T>C (PRKRA)	ENSP00000408668.2:n.*322T>C
ENST00000474793.6:n.959T>C (PRKRA)
ENST00000676505.1:c.*578T>C (PRKRA)	ENSP00000504163.1:n.*578T>C
ENST00000676586.1:n.2955T>C (PRKRA)
ENST00000676752.1:n.2717T>C (PRKRA)
ENST00000676832.1:c.*639T>C (PRKRA)	ENSP00000503231.1:n.*639T>C
ENST00000676922.1:c.*546T>C (PRKRA)	ENSP00000503369.1:n.*546T>C
ENST00000677136.1:n.2810T>C (PRKRA)
ENST00000677206.1:c.*610T>C (PRKRA)	ENSP00000503034.1:n.*610T>C
ENST00000677253.1:c.*515T>C (PRKRA)	ENSP00000503466.1:n.*515T>C
ENST00000677386.1:c.*261T>C (PRKRA)	ENSP00000503003.1:n.*261T>C
ENST00000677460.1:c.*147T>C (PRKRA)	ENSP00000504507.1:n.*147T>C
ENST00000677584.1:c.*656T>C (PRKRA)	ENSP00000504411.1:n.*656T>C
ENST00000677689.1:c.563T>C (PRKRA)	ENSP00000502919.1:p.Leu188Pro
ENST00000677859.1:c.671T>C (PRKRA)
ENST00000677981.1:c.566T>C (PRKRA)	ENSP00000503536.1:p.Leu189Pro
ENST00000678053.1:c.*578T>C (PRKRA)	ENSP00000504330.1:n.*578T>C
ENST00000678058.1:c.562T>C (PRKRA)	ENSP00000503203.1:n.562T>C
ENST00000678167.1:c.*372T>C (PRKRA)	ENSP00000504479.1:n.*372T>C
ENST00000678775.1:c.479T>C (PRKRA)	ENSP00000504030.1:p.Leu160Pro
ENST00000678845.1:c.479T>C (PRKRA)	ENSP00000503011.1:p.Leu160Pro
ENST00000679037.1:c.*486T>C (PRKRA)	ENSP00000504421.1:n.*486T>C
ENST00000679202.1:n.1905T>C (PRKRA)
ENST00000325748.8:c.818T>C (PRKRA)	ENSP00000318176.4:p.Leu273Pro
ENST00000424699.5:c.*610T>C (PRKRA)	ENSP00000408029.1:n.*610T>C
ENST00000432031.6:c.785T>C (PRKRA)	ENSP00000393883.2:p.Leu262Pro
ENST00000487082.5:c.743T>C (PRKRA)	ENSP00000430604.1:p.Leu248Pro
ENST00000490501.5:n.1045T>C (PRKRA)
NM_001139517.1:c.785T>C (PRKRA)	NP_001132989.1:p.Leu262Pro
NM_001139518.1:c.743T>C (PRKRA)	NP_001132990.1:p.Leu248Pro
NM_001316362.1:c.479T>C (PRKRA)	NP_001303291.1:p.Leu160Pro
NM_003690.4:c.818T>C (PRKRA)	NP_003681.1:p.Leu273Pro
NR_110204.1:n.872-1161A>G (CHROMR)
NR_110205.1:n.716-1161A>G (CHROMR)
NR_110206.1:n.651-1161A>G (CHROMR)
XM_005246921.3:c.479T>C (PRKRA)	XP_005246978.1:p.Leu160Pro
XM_011512063.1:c.563T>C (PRKRA)	XP_011510365.1:p.Leu188Pro
XM_011512064.1:c.563T>C (PRKRA)	XP_011510366.1:p.Leu188Pro
XM_011512066.1:c.479T>C (PRKRA)	XP_011510368.1:p.Leu160Pro
XM_011512063.2:c.563T>C (PRKRA)	XP_011510365.1:p.Leu188Pro
XM_011512066.2:c.479T>C (PRKRA)	XP_011510368.1:p.Leu160Pro
XM_017005159.1:c.479T>C (PRKRA)	XP_016860648.1:p.Leu160Pro
XR_001739008.2:n.859T>C (PRKRA)
NM_003690.5:c.818T>C (PRKRA) MANE Select	NP_003681.1:p.Leu273Pro
NM_001316362.2:c.479T>C (PRKRA)	NP_001303291.1:p.Leu160Pro