Canonical Allele Identifier: CA270007813

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs376469260
• gnomAD v4: 15-43601554-A-G
• MyVariant Identifiers: chr15:g.43893752A>G (hg19) ; chr15:g.43601554A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43601554A>G , CM000677.2:g.43601554A>G	GRCh38
NC_000015.9:g.43893752A>G , CM000677.1:g.43893752A>G	GRCh37
NC_000015.8:g.41681044A>G	NCBI36
NG_011636.1:g.22247T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4546-3T>C (STRC) MANE Select	ENSP00000401513.2:n.4546-3T>C
ENST00000411560.1:n.142+2021A>G (CKMT1B)
ENST00000428650.5:c.*1579-3T>C (STRC)	ENSP00000415991.1:n.*1579-3T>C
ENST00000440125.5:c.*2338-3T>C (STRC)	ENSP00000394866.1:n.*2338-3T>C
ENST00000448437.6:n.1666-3T>C (STRC)
ENST00000450892.6:c.4546-3T>C (STRC)	ENSP00000401513.2:n.4546-3T>C
ENST00000460952.1:n.122T>C (STRC)
ENST00000471703.5:n.2500-3T>C (STRC)
ENST00000485556.5:n.3401-3T>C (STRC)
ENST00000493750.1:n.342-3T>C (STRC)
ENST00000541030.5:c.2227-3T>C (STRC)	ENSP00000440413.1:n.2227-3T>C
NM_153700.2:c.4546-3T>C (STRC) MANE Select	NP_714544.1:n.4546-3T>C
XM_011521277.1:c.5035-3T>C (STRC)	XP_011519579.1:n.5035-3T>C
XM_011521278.1:c.4651-3T>C (STRC)	XP_011519580.1:n.4651-3T>C
XM_011521279.1:c.4651-3T>C (STRC)	XP_011519581.1:n.4651-3T>C