Canonical Allele Identifier: CA493477501
Community Standard Title: NM_002582.4(PARN):c.1818A>G (p.Lys606=)
Gene: PARN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.14446934T>C , CM000678.2:g.14446934T>C GRCh38
NC_000016.9:g.14540791T>C , CM000678.1:g.14540791T>C GRCh37
NC_000016.8:g.14448292T>C NCBI36
NG_042871.1:g.188338A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002582.4:c.1818A>G MANE Select NP_002573.1:p.Lys606=
ENST00000437198.7:c.1818A>G MANE Select ENSP00000387911.2:p.Lys606=
NM_001134477.2:c.1635A>G NP_001127949.1:p.Lys545=
NM_001134477.3:c.1635A>G NP_001127949.1:p.Lys545=
NM_001242992.1:c.1680A>G NP_001229921.1:p.Lys560=
NM_001242992.2:c.1680A>G NP_001229921.1:p.Lys560=
NM_002582.3:c.1818A>G NP_002573.1:p.Lys606=
ENST00000341484.11:c.1635A>G ENSP00000345456.7:p.Lys545=
ENST00000420015.6:c.1680A>G ENSP00000410525.2:p.Lys560=
ENST00000437198.6:c.1818A>G ENSP00000387911.2:p.Lys606=
ENST00000539279.5:c.1293A>G ENSP00000444381.1:p.Lys431=
ENST00000650990.1:c.1893A>G ENSP00000498741.1:p.Lys631=
ENST00000651300.1:c.*1625A>G ENSP00000498294.1:n.*1625A>G
ENST00000651348.1:c.*889A>G ENSP00000498315.1:n.*889A>G
ENST00000651760.1:c.3006A>G
ENST00000651865.1:c.1743A>G ENSP00000498567.1:p.Lys581=
ENST00000652051.1:c.*594A>G ENSP00000498898.1:n.*594A>G
ENST00000652066.1:c.1719A>G
ENST00000652541.1:c.*1650A>G ENSP00000499206.1:n.*1650A>G
ENST00000652727.1:c.1644A>G ENSP00000498650.1:p.Lys548=
ENST00000697471.1:n.2269A>G
ENST00000697472.1:n.1859A>G
ENST00000697473.1:n.3420A>G
ENST00000697474.1:c.1818A>G ENSP00000513329.1:p.Lys606=