Canonical Allele Identifier: CA7527840

Gene: STRC CKMT1B

Linked Data

• ClinVar Variation Id: 805531
• ClinVar RCV Id: RCV000993096 ; RCV002468101 ; RCV002488095
• dbSNP Id: rs2860666
• ExAC: 15:43892808 T / G
• gnomAD v2: 15-43892808-T-G
• gnomAD v3: 15-43600610-T-G
• gnomAD v4: 15-43600610-T-G
• MyVariant Identifiers: chr15:g.43892808T>G (hg19) ; chr15:g.43600610T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43600610T>G , CM000677.2:g.43600610T>G	GRCh38
NC_000015.9:g.43892808T>G , CM000677.1:g.43892808T>G	GRCh37
NC_000015.8:g.41680100T>G	NCBI36
NG_011636.1:g.23191A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4917A>C (STRC) MANE Select	ENSP00000401513.2:p.Leu1639=
ENST00000411560.1:n.142+1077T>G (CKMT1B)
ENST00000428650.5:c.*1950A>C (STRC)	ENSP00000415991.1:n.*1950A>C
ENST00000440125.5:c.*2709A>C (STRC)	ENSP00000394866.1:n.*2709A>C
ENST00000448437.6:n.2037A>C (STRC)
ENST00000450892.6:c.4917A>C (STRC)	ENSP00000401513.2:p.Leu1639=
ENST00000460952.1:n.496A>C (STRC)
ENST00000471703.5:n.2871A>C (STRC)
ENST00000485556.5:n.3772A>C (STRC)
ENST00000541030.5:c.2598A>C (STRC)	ENSP00000440413.1:p.Leu866=
NM_153700.2:c.4917A>C (STRC) MANE Select	NP_714544.1:p.Leu1639=
XM_011521277.1:c.5406A>C (STRC)	XP_011519579.1:p.Leu1802=
XM_011521278.1:c.5022A>C (STRC)	XP_011519580.1:p.Leu1674=
XM_011521279.1:c.5022A>C (STRC)	XP_011519581.1:p.Leu1674=