Canonical Allele Identifier: CA490149068

Linked Data

MyVariant Identifiers: chr15:g.43896928G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604730G>C , CM000677.2:g.43604730G>C GRCh38
NC_000015.9:g.43896928G>C , CM000677.1:g.43896928G>C GRCh37
NC_000015.8:g.41684220G>C NCBI36
NG_011636.1:g.19071C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000450892.7:c.4047C>G (STRC) MANE Select ENSP00000401513.2:p.Leu1349=
ENST00000411560.1:n.143-54G>C (CKMT1B)
ENST00000428650.5:c.*1250C>G (STRC) ENSP00000415991.1:n.*1250C>G
ENST00000440125.5:c.*1839C>G (STRC) ENSP00000394866.1:n.*1839C>G
ENST00000448437.6:n.1665+3133C>G (STRC)
ENST00000450892.6:c.4047C>G (STRC) ENSP00000401513.2:p.Leu1349=
ENST00000455136.5:c.1078C>G (STRC)
ENST00000471703.5:n.2001C>G (STRC)
ENST00000485556.5:n.2902C>G (STRC)
ENST00000541030.5:c.1728C>G (STRC) ENSP00000440413.1:p.Leu576=
NM_153700.2:c.4047C>G (STRC) MANE Select NP_714544.1:p.Leu1349=
XM_011521277.1:c.4536C>G (STRC) XP_011519579.1:p.Leu1512=
XM_011521278.1:c.4152C>G (STRC) XP_011519580.1:p.Leu1384=
XM_011521279.1:c.4152C>G (STRC) XP_011519581.1:p.Leu1384=