Canonical Allele Identifier: CA1984093
Community Standard Title: NM_003690.5(PRKRA):c.1A>C (p.Met1Leu)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178451030T>G , CM000664.2:g.178451030T>G GRCh38
NC_000002.11:g.179315757T>G , CM000664.1:g.179315757T>G GRCh37
NC_000002.10:g.179024003T>G NCBI36
NG_009053.1:g.5202A>C
NG_012186.1:g.4595T>G

Transcript Alleles

HGVS Amino-acid Change
NM_003690.5:c.1A>C (PRKRA) MANE Select NP_003681.1:p.Met1Leu
ENST00000325748.9:c.1A>C (PRKRA) MANE Select ENSP00000318176.4:p.Met1Leu
NM_001316362.1:c.-449A>C (PRKRA) NP_001303291.1:n.-449A>C
NM_001316362.2:c.-449A>C (PRKRA) NP_001303291.1:n.-449A>C
NM_003690.4:c.1A>C (PRKRA) NP_003681.1:p.Met1Leu
ENST00000325748.8:c.1A>C (PRKRA) ENSP00000318176.4:p.Met1Leu
ENST00000424699.5:c.1A>C (PRKRA) ENSP00000408029.1:p.Met1Leu
ENST00000457633.1:c.-587A>C (PRKRA) ENSP00000408668.1:n.-587A>C
ENST00000457633.2:c.-587A>C (PRKRA) ENSP00000408668.2:n.-587A>C
ENST00000463882.1:n.144A>C (PRKRA)
ENST00000466165.1:n.84A>C (PRKRA)
ENST00000470200.5:n.133-9A>C (PRKRA)
ENST00000676832.1:c.1A>C (PRKRA) ENSP00000503231.1:p.Met1Leu
ENST00000676922.1:c.1A>C (PRKRA) ENSP00000503369.1:p.Met1Leu
ENST00000677253.1:c.1A>C (PRKRA) ENSP00000503466.1:p.Met1Leu
ENST00000677386.1:c.1A>C (PRKRA) ENSP00000503003.1:p.Met1Leu
ENST00000677460.1:c.1A>C (PRKRA) ENSP00000504507.1:p.Met1Leu
ENST00000677584.1:c.1A>C (PRKRA) ENSP00000504411.1:p.Met1Leu
ENST00000677689.1:c.-134A>C (PRKRA) ENSP00000502919.1:n.-134A>C
ENST00000677806.1:n.249A>C (PRKRA)
ENST00000677981.1:c.1A>C (PRKRA) ENSP00000503536.1:p.Met1Leu
ENST00000678053.1:c.1A>C (PRKRA) ENSP00000504330.1:p.Met1Leu
ENST00000678167.1:c.1A>C (PRKRA) ENSP00000504479.1:p.Met1Leu
ENST00000678775.1:c.-328A>C (PRKRA) ENSP00000504030.1:n.-328A>C
ENST00000678813.1:n.249A>C (PRKRA)
ENST00000678845.1:c.-169A>C (PRKRA) ENSP00000503011.1:n.-169A>C
ENST00000679037.1:c.1A>C (PRKRA) ENSP00000504421.1:p.Met1Leu
XM_005246921.3:c.-169A>C (PRKRA) XP_005246978.1:n.-169A>C
XM_011511251.1:c.-267+422T>G (PJVK) XP_011509553.1:n.-267+422T>G
XM_011512063.1:c.-304A>C (PRKRA) XP_011510365.1:n.-304A>C
XM_011512063.2:c.-304A>C (PRKRA) XP_011510365.1:n.-304A>C
XM_011512064.1:c.-134A>C (PRKRA) XP_011510366.1:n.-134A>C
XM_017005159.1:c.-498A>C (PRKRA) XP_016860648.1:n.-498A>C
XR_001739008.2:n.137A>C (PRKRA)