Canonical Allele Identifier: CA392164160

Linked Data

dbSNP Id: rs750246174

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601542G>C , CM000677.2:g.43601542G>C GRCh38
NC_000015.9:g.43893740G>C , CM000677.1:g.43893740G>C GRCh37
NC_000015.8:g.41681032G>C NCBI36
NG_011636.1:g.22259C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4555C>G (STRC) MANE Select ENSP00000401513.2:p.Pro1519Ala
ENST00000411560.1:n.142+2009G>C (CKMT1B)
ENST00000428650.5:c.*1588C>G (STRC) ENSP00000415991.1:n.*1588C>G
ENST00000440125.5:c.*2347C>G (STRC) ENSP00000394866.1:n.*2347C>G
ENST00000448437.6:n.1675C>G (STRC)
ENST00000450892.6:c.4555C>G (STRC) ENSP00000401513.2:p.Pro1519Ala
ENST00000460952.1:n.134C>G (STRC)
ENST00000471703.5:n.2509C>G (STRC)
ENST00000485556.5:n.3410C>G (STRC)
ENST00000493750.1:n.351C>G (STRC)
ENST00000541030.5:c.2236C>G (STRC) ENSP00000440413.1:p.Pro746Ala
NM_153700.2:c.4555C>G (STRC) MANE Select NP_714544.1:p.Pro1519Ala
XM_011521277.1:c.5044C>G (STRC) XP_011519579.1:p.Pro1682Ala
XM_011521278.1:c.4660C>G (STRC) XP_011519580.1:p.Pro1554Ala
XM_011521279.1:c.4660C>G (STRC) XP_011519581.1:p.Pro1554Ala