Canonical Allele Identifier: CA969212486

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs2085666307
• gnomAD v3: 15-43601333-T-C
• gnomAD v4: 15-43601333-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43601333T>C , CM000677.2:g.43601333T>C	GRCh38
NC_000015.9:g.43893531T>C , CM000677.1:g.43893531T>C	GRCh37
NC_000015.8:g.41680823T>C	NCBI36
NG_011636.1:g.22468A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4701+63A>G (STRC) MANE Select	ENSP00000401513.2:n.4701+63A>G
ENST00000411560.1:n.142+1800T>C (CKMT1B)
ENST00000428650.5:c.*1734+63A>G (STRC)	ENSP00000415991.1:n.*1734+63A>G
ENST00000440125.5:c.*2493+63A>G (STRC)	ENSP00000394866.1:n.*2493+63A>G
ENST00000448437.6:n.1821+63A>G (STRC)
ENST00000450892.6:c.4701+63A>G (STRC)	ENSP00000401513.2:n.4701+63A>G
ENST00000460952.1:n.280+63A>G (STRC)
ENST00000471703.5:n.2655+63A>G (STRC)
ENST00000485556.5:n.3556+63A>G (STRC)
ENST00000493750.1:n.497+63A>G (STRC)
ENST00000541030.5:c.2382+63A>G (STRC)	ENSP00000440413.1:n.2382+63A>G
NM_153700.2:c.4701+63A>G (STRC) MANE Select	NP_714544.1:n.4701+63A>G
XM_011521277.1:c.5190+63A>G (STRC)	XP_011519579.1:n.5190+63A>G
XM_011521278.1:c.4806+63A>G (STRC)	XP_011519580.1:n.4806+63A>G
XM_011521279.1:c.4806+63A>G (STRC)	XP_011519581.1:n.4806+63A>G