Canonical Allele Identifier: CA392162222

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600657G>C , CM000677.2:g.43600657G>C GRCh38
NC_000015.9:g.43892855G>C , CM000677.1:g.43892855G>C GRCh37
NC_000015.8:g.41680147G>C NCBI36
NG_011636.1:g.23144C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4870C>G (STRC) MANE Select ENSP00000401513.2:p.Leu1624Val
ENST00000411560.1:n.142+1124G>C (CKMT1B)
ENST00000428650.5:c.*1903C>G (STRC) ENSP00000415991.1:n.*1903C>G
ENST00000440125.5:c.*2662C>G (STRC) ENSP00000394866.1:n.*2662C>G
ENST00000448437.6:n.1990C>G (STRC)
ENST00000450892.6:c.4870C>G (STRC) ENSP00000401513.2:p.Leu1624Val
ENST00000460952.1:n.449C>G (STRC)
ENST00000471703.5:n.2824C>G (STRC)
ENST00000485556.5:n.3725C>G (STRC)
ENST00000541030.5:c.2551C>G (STRC) ENSP00000440413.1:p.Leu851Val
NM_153700.2:c.4870C>G (STRC) MANE Select NP_714544.1:p.Leu1624Val
XM_011521277.1:c.5359C>G (STRC) XP_011519579.1:p.Leu1787Val
XM_011521278.1:c.4975C>G (STRC) XP_011519580.1:p.Leu1659Val
XM_011521279.1:c.4975C>G (STRC) XP_011519581.1:p.Leu1659Val