Canonical Allele Identifier: CA490144915

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs1448281022
• gnomAD v4: 15-43600631-T-C
• MyVariant Identifiers: chr15:g.43892829T>C (hg19) ; chr15:g.43600631T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43600631T>C , CM000677.2:g.43600631T>C	GRCh38
NC_000015.9:g.43892829T>C , CM000677.1:g.43892829T>C	GRCh37
NC_000015.8:g.41680121T>C	NCBI36
NG_011636.1:g.23170A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4896A>G (STRC) MANE Select	ENSP00000401513.2:p.Gln1632=
ENST00000411560.1:n.142+1098T>C (CKMT1B)
ENST00000428650.5:c.*1929A>G (STRC)	ENSP00000415991.1:n.*1929A>G
ENST00000440125.5:c.*2688A>G (STRC)	ENSP00000394866.1:n.*2688A>G
ENST00000448437.6:n.2016A>G (STRC)
ENST00000450892.6:c.4896A>G (STRC)	ENSP00000401513.2:p.Gln1632=
ENST00000460952.1:n.475A>G (STRC)
ENST00000471703.5:n.2850A>G (STRC)
ENST00000485556.5:n.3751A>G (STRC)
ENST00000541030.5:c.2577A>G (STRC)	ENSP00000440413.1:p.Gln859=
NM_153700.2:c.4896A>G (STRC) MANE Select	NP_714544.1:p.Gln1632=
XM_011521277.1:c.5385A>G (STRC)	XP_011519579.1:p.Gln1795=
XM_011521278.1:c.5001A>G (STRC)	XP_011519580.1:p.Gln1667=
XM_011521279.1:c.5001A>G (STRC)	XP_011519581.1:p.Gln1667=