Canonical Allele Identifier: CA392157702

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599736T>G , CM000677.2:g.43599736T>G GRCh38
NC_000015.9:g.43891934T>G , CM000677.1:g.43891934T>G GRCh37
NC_000015.8:g.41679226T>G NCBI36
NG_011636.1:g.24065A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5264A>C (STRC) MANE Select ENSP00000401513.2:p.Gln1755Pro
ENST00000411560.1:n.142+203T>G (CKMT1B)
ENST00000428650.5:c.*2297A>C (STRC) ENSP00000415991.1:n.*2297A>C
ENST00000440125.5:c.*3056A>C (STRC) ENSP00000394866.1:n.*3056A>C
ENST00000448437.6:n.2384A>C (STRC)
ENST00000450892.6:c.5264A>C (STRC) ENSP00000401513.2:p.Gln1755Pro
ENST00000471703.5:n.3218A>C (STRC)
ENST00000485556.5:n.4119A>C (STRC)
ENST00000541030.5:c.2945A>C (STRC) ENSP00000440413.1:p.Gln982Pro
NM_153700.2:c.5264A>C (STRC) MANE Select NP_714544.1:p.Gln1755Pro
XM_011521277.1:c.5753A>C (STRC) XP_011519579.1:p.Gln1918Pro
XM_011521278.1:c.5369A>C (STRC) XP_011519580.1:p.Gln1790Pro
XM_011521279.1:c.5369A>C (STRC) XP_011519581.1:p.Gln1790Pro