Canonical Allele Identifier: CA392159983

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600556G>C , CM000677.2:g.43600556G>C GRCh38
NC_000015.9:g.43892754G>C , CM000677.1:g.43892754G>C GRCh37
NC_000015.8:g.41680046G>C NCBI36
NG_011636.1:g.23245C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000450892.7:c.4971C>G (STRC) MANE Select ENSP00000401513.2:p.Phe1657Leu
ENST00000411560.1:n.142+1023G>C (CKMT1B)
ENST00000428650.5:c.*2004C>G (STRC) ENSP00000415991.1:n.*2004C>G
ENST00000440125.5:c.*2763C>G (STRC) ENSP00000394866.1:n.*2763C>G
ENST00000448437.6:n.2091C>G (STRC)
ENST00000450892.6:c.4971C>G (STRC) ENSP00000401513.2:p.Phe1657Leu
ENST00000471703.5:n.2925C>G (STRC)
ENST00000485556.5:n.3826C>G (STRC)
ENST00000541030.5:c.2652C>G (STRC) ENSP00000440413.1:p.Phe884Leu
NM_153700.2:c.4971C>G (STRC) MANE Select NP_714544.1:p.Phe1657Leu
XM_011521277.1:c.5460C>G (STRC) XP_011519579.1:p.Phe1820Leu
XM_011521278.1:c.5076C>G (STRC) XP_011519580.1:p.Phe1692Leu
XM_011521279.1:c.5076C>G (STRC) XP_011519581.1:p.Phe1692Leu