Canonical Allele Identifier: CA7527782

Gene: STRC CKMT1B

Linked Data

• ClinVar Variation Id: 505196
• ClinVar RCV Id: RCV000610766 ; RCV000993097 ; RCV002467921
• dbSNP Id: rs200770543
• ExAC: 15:43892197 A / G
• gnomAD v2: 15-43892197-A-G
• gnomAD v3: 15-43599999-A-G
• gnomAD v4: 15-43599999-A-G
• MyVariant Identifiers: chr15:g.43892197A>G (hg19) ; chr15:g.43599999A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43599999A>G , CM000677.2:g.43599999A>G	GRCh38
NC_000015.9:g.43892197A>G , CM000677.1:g.43892197A>G	GRCh37
NC_000015.8:g.41679489A>G	NCBI36
NG_011636.1:g.23802T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.5200T>C (STRC) MANE Select	ENSP00000401513.2:p.Trp1734Arg
ENST00000411560.1:n.142+466A>G (CKMT1B)
ENST00000428650.5:c.*2233T>C (STRC)	ENSP00000415991.1:n.*2233T>C
ENST00000440125.5:c.*2992T>C (STRC)	ENSP00000394866.1:n.*2992T>C
ENST00000448437.6:n.2320T>C (STRC)
ENST00000450892.6:c.5200T>C (STRC)	ENSP00000401513.2:p.Trp1734Arg
ENST00000471703.5:n.3154T>C (STRC)
ENST00000485556.5:n.4055T>C (STRC)
ENST00000541030.5:c.2881T>C (STRC)	ENSP00000440413.1:p.Trp961Arg
NM_153700.2:c.5200T>C (STRC) MANE Select	NP_714544.1:p.Trp1734Arg
XM_011521277.1:c.5689T>C (STRC)	XP_011519579.1:p.Trp1897Arg
XM_011521278.1:c.5305T>C (STRC)	XP_011519580.1:p.Trp1769Arg
XM_011521279.1:c.5305T>C (STRC)	XP_011519581.1:p.Trp1769Arg