Canonical Allele Identifier: CA490145129

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs1215242712
• gnomAD v2: 15-43893186-T-C
• gnomAD v4: 15-43600988-T-C
• MyVariant Identifiers: chr15:g.43893186T>C (hg19) ; chr15:g.43600988T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43600988T>C , CM000677.2:g.43600988T>C	GRCh38
NC_000015.9:g.43893186T>C , CM000677.1:g.43893186T>C	GRCh37
NC_000015.8:g.41680478T>C	NCBI36
NG_011636.1:g.22813A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4728A>G (STRC) MANE Select	ENSP00000401513.2:p.Leu1576=
ENST00000411560.1:n.142+1455T>C (CKMT1B)
ENST00000428650.5:c.*1761A>G (STRC)	ENSP00000415991.1:n.*1761A>G
ENST00000440125.5:c.*2520A>G (STRC)	ENSP00000394866.1:n.*2520A>G
ENST00000448437.6:n.1848A>G (STRC)
ENST00000450892.6:c.4728A>G (STRC)	ENSP00000401513.2:p.Leu1576=
ENST00000460952.1:n.307A>G (STRC)
ENST00000471703.5:n.2682A>G (STRC)
ENST00000485556.5:n.3583A>G (STRC)
ENST00000541030.5:c.2409A>G (STRC)	ENSP00000440413.1:p.Leu803=
NM_153700.2:c.4728A>G (STRC) MANE Select	NP_714544.1:p.Leu1576=
XM_011521277.1:c.5217A>G (STRC)	XP_011519579.1:p.Leu1739=
XM_011521278.1:c.4833A>G (STRC)	XP_011519580.1:p.Leu1611=
XM_011521279.1:c.4833A>G (STRC)	XP_011519581.1:p.Leu1611=