Canonical Allele Identifier: CA392164144

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601539G>C , CM000677.2:g.43601539G>C GRCh38
NC_000015.9:g.43893737G>C , CM000677.1:g.43893737G>C GRCh37
NC_000015.8:g.41681029G>C NCBI36
NG_011636.1:g.22262C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4558C>G (STRC) MANE Select ENSP00000401513.2:p.Pro1520Ala
ENST00000411560.1:n.142+2006G>C (CKMT1B)
ENST00000428650.5:c.*1591C>G (STRC) ENSP00000415991.1:n.*1591C>G
ENST00000440125.5:c.*2350C>G (STRC) ENSP00000394866.1:n.*2350C>G
ENST00000448437.6:n.1678C>G (STRC)
ENST00000450892.6:c.4558C>G (STRC) ENSP00000401513.2:p.Pro1520Ala
ENST00000460952.1:n.137C>G (STRC)
ENST00000471703.5:n.2512C>G (STRC)
ENST00000485556.5:n.3413C>G (STRC)
ENST00000493750.1:n.354C>G (STRC)
ENST00000541030.5:c.2239C>G (STRC) ENSP00000440413.1:p.Pro747Ala
NM_153700.2:c.4558C>G (STRC) MANE Select NP_714544.1:p.Pro1520Ala
XM_011521277.1:c.5047C>G (STRC) XP_011519579.1:p.Pro1683Ala
XM_011521278.1:c.4663C>G (STRC) XP_011519580.1:p.Pro1555Ala
XM_011521279.1:c.4663C>G (STRC) XP_011519581.1:p.Pro1555Ala