Canonical Allele Identifier: CA490144992

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs1417545419
• gnomAD v2: 15-43892856-G-C
• gnomAD v4: 15-43600658-G-C
• MyVariant Identifiers: chr15:g.43892856G>C (hg19) ; chr15:g.43600658G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43600658G>C , CM000677.2:g.43600658G>C	GRCh38
NC_000015.9:g.43892856G>C , CM000677.1:g.43892856G>C	GRCh37
NC_000015.8:g.41680148G>C	NCBI36
NG_011636.1:g.23143C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000450892.7:c.4869C>G (STRC) MANE Select	ENSP00000401513.2:p.Thr1623=
ENST00000411560.1:n.142+1125G>C (CKMT1B)
ENST00000428650.5:c.*1902C>G (STRC)	ENSP00000415991.1:n.*1902C>G
ENST00000440125.5:c.*2661C>G (STRC)	ENSP00000394866.1:n.*2661C>G
ENST00000448437.6:n.1989C>G (STRC)
ENST00000450892.6:c.4869C>G (STRC)	ENSP00000401513.2:p.Thr1623=
ENST00000460952.1:n.448C>G (STRC)
ENST00000471703.5:n.2823C>G (STRC)
ENST00000485556.5:n.3724C>G (STRC)
ENST00000541030.5:c.2550C>G (STRC)	ENSP00000440413.1:p.Thr850=
NM_153700.2:c.4869C>G (STRC) MANE Select	NP_714544.1:p.Thr1623=
XM_011521277.1:c.5358C>G (STRC)	XP_011519579.1:p.Thr1786=
XM_011521278.1:c.4974C>G (STRC)	XP_011519580.1:p.Thr1658=
XM_011521279.1:c.4974C>G (STRC)	XP_011519581.1:p.Thr1658=