Canonical Allele Identifier: CA490144757

Linked Data

dbSNP Id: rs1171249494

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600565A>C , CM000677.2:g.43600565A>C GRCh38
NC_000015.9:g.43892763A>C , CM000677.1:g.43892763A>C GRCh37
NC_000015.8:g.41680055A>C NCBI36
NG_011636.1:g.23236T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4962T>G (STRC) MANE Select ENSP00000401513.2:p.Pro1654=
ENST00000411560.1:n.142+1032A>C (CKMT1B)
ENST00000428650.5:c.*1995T>G (STRC) ENSP00000415991.1:n.*1995T>G
ENST00000440125.5:c.*2754T>G (STRC) ENSP00000394866.1:n.*2754T>G
ENST00000448437.6:n.2082T>G (STRC)
ENST00000450892.6:c.4962T>G (STRC) ENSP00000401513.2:p.Pro1654=
ENST00000460952.1:n.541T>G (STRC)
ENST00000471703.5:n.2916T>G (STRC)
ENST00000485556.5:n.3817T>G (STRC)
ENST00000541030.5:c.2643T>G (STRC) ENSP00000440413.1:p.Pro881=
NM_153700.2:c.4962T>G (STRC) MANE Select NP_714544.1:p.Pro1654=
XM_011521277.1:c.5451T>G (STRC) XP_011519579.1:p.Pro1817=
XM_011521278.1:c.5067T>G (STRC) XP_011519580.1:p.Pro1689=
XM_011521279.1:c.5067T>G (STRC) XP_011519581.1:p.Pro1689=