Canonical Allele Identifier: CA430091038

Gene: PRKRA CHROMR

Linked Data

• MyVariant Identifiers: chr2:g.179300969C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178436242C>A , CM000664.2:g.178436242C>A	GRCh38
NC_000002.11:g.179300969C>A , CM000664.1:g.179300969C>A	GRCh37
NC_000002.10:g.179009215C>A	NCBI36
NG_009053.1:g.19990G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325748.9:c.687G>T (PRKRA) MANE Select	ENSP00000318176.4:p.Leu229=
ENST00000448279.2:c.*415G>T (PRKRA)	ENSP00000388455.1:n.*415G>T
ENST00000457633.2:c.*191G>T (PRKRA)	ENSP00000408668.2:n.*191G>T
ENST00000474793.6:n.828G>T (PRKRA)
ENST00000676505.1:c.*447G>T (PRKRA)	ENSP00000504163.1:n.*447G>T
ENST00000676586.1:n.2824G>T (PRKRA)
ENST00000676752.1:n.2586G>T (PRKRA)
ENST00000676832.1:c.*508G>T (PRKRA)	ENSP00000503231.1:n.*508G>T
ENST00000676922.1:c.*415G>T (PRKRA)	ENSP00000503369.1:n.*415G>T
ENST00000677136.1:n.2679G>T (PRKRA)
ENST00000677206.1:c.*479G>T (PRKRA)	ENSP00000503034.1:n.*479G>T
ENST00000677253.1:c.*384G>T (PRKRA)	ENSP00000503466.1:n.*384G>T
ENST00000677386.1:c.*130G>T (PRKRA)	ENSP00000503003.1:n.*130G>T
ENST00000677460.1:c.*16G>T (PRKRA)	ENSP00000504507.1:n.*16G>T
ENST00000677584.1:c.*525G>T (PRKRA)	ENSP00000504411.1:n.*525G>T
ENST00000677689.1:c.432G>T (PRKRA)	ENSP00000502919.1:p.Leu144=
ENST00000677859.1:c.540G>T (PRKRA)
ENST00000677981.1:c.435G>T (PRKRA)	ENSP00000503536.1:p.Leu145=
ENST00000678053.1:c.*447G>T (PRKRA)	ENSP00000504330.1:n.*447G>T
ENST00000678058.1:c.431G>T (PRKRA)	ENSP00000503203.1:n.431G>T
ENST00000678167.1:c.*241G>T (PRKRA)	ENSP00000504479.1:n.*241G>T
ENST00000678775.1:c.348G>T (PRKRA)	ENSP00000504030.1:p.Leu116=
ENST00000678845.1:c.348G>T (PRKRA)	ENSP00000503011.1:p.Leu116=
ENST00000679037.1:c.*355G>T (PRKRA)	ENSP00000504421.1:n.*355G>T
ENST00000679202.1:n.1774G>T (PRKRA)
ENST00000325748.8:c.687G>T (PRKRA)	ENSP00000318176.4:p.Leu229=
ENST00000424699.5:c.*479G>T (PRKRA)	ENSP00000408029.1:n.*479G>T
ENST00000432031.6:c.654G>T (PRKRA)	ENSP00000393883.2:p.Leu218=
ENST00000487082.5:c.612G>T (PRKRA)	ENSP00000430604.1:p.Leu204=
ENST00000490501.5:n.914G>T (PRKRA)
NM_001139517.1:c.654G>T (PRKRA)	NP_001132989.1:p.Leu218=
NM_001139518.1:c.612G>T (PRKRA)	NP_001132990.1:p.Leu204=
NM_001316362.1:c.348G>T (PRKRA)	NP_001303291.1:p.Leu116=
NM_003690.4:c.687G>T (PRKRA)	NP_003681.1:p.Leu229=
NR_110204.1:n.966-2625C>A (CHROMR)
XM_005246921.3:c.348G>T (PRKRA)	XP_005246978.1:p.Leu116=
XM_011512063.1:c.432G>T (PRKRA)	XP_011510365.1:p.Leu144=
XM_011512064.1:c.432G>T (PRKRA)	XP_011510366.1:p.Leu144=
XM_011512066.1:c.348G>T (PRKRA)	XP_011510368.1:p.Leu116=
XM_011512063.2:c.432G>T (PRKRA)	XP_011510365.1:p.Leu144=
XM_011512066.2:c.348G>T (PRKRA)	XP_011510368.1:p.Leu116=
XM_017005159.1:c.348G>T (PRKRA)	XP_016860648.1:p.Leu116=
XR_001739008.2:n.728G>T (PRKRA)
NM_003690.5:c.687G>T (PRKRA) MANE Select	NP_003681.1:p.Leu229=
NM_001316362.2:c.348G>T (PRKRA)	NP_001303291.1:p.Leu116=