Canonical Allele Identifier: CA7527969

Linked Data

dbSNP Id: rs748432576

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601505A>G , CM000677.2:g.43601505A>G GRCh38
NC_000015.9:g.43893703A>G , CM000677.1:g.43893703A>G GRCh37
NC_000015.8:g.41680995A>G NCBI36
NG_011636.1:g.22296T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4592T>C (STRC) MANE Select ENSP00000401513.2:p.Leu1531Pro
ENST00000411560.1:n.142+1972A>G (CKMT1B)
ENST00000428650.5:c.*1625T>C (STRC) ENSP00000415991.1:n.*1625T>C
ENST00000440125.5:c.*2384T>C (STRC) ENSP00000394866.1:n.*2384T>C
ENST00000448437.6:n.1712T>C (STRC)
ENST00000450892.6:c.4592T>C (STRC) ENSP00000401513.2:p.Leu1531Pro
ENST00000460952.1:n.171T>C (STRC)
ENST00000471703.5:n.2546T>C (STRC)
ENST00000485556.5:n.3447T>C (STRC)
ENST00000493750.1:n.388T>C (STRC)
ENST00000541030.5:c.2273T>C (STRC) ENSP00000440413.1:p.Leu758Pro
NM_153700.2:c.4592T>C (STRC) MANE Select NP_714544.1:p.Leu1531Pro
XM_011521277.1:c.5081T>C (STRC) XP_011519579.1:p.Leu1694Pro
XM_011521278.1:c.4697T>C (STRC) XP_011519580.1:p.Leu1566Pro
XM_011521279.1:c.4697T>C (STRC) XP_011519581.1:p.Leu1566Pro