Canonical Allele Identifier: CA392157929

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs1595956431
• gnomAD v3: 15-43599966-G-C
• gnomAD v4: 15-43599966-G-C
• MyVariant Identifiers: chr15:g.43892164G>C (hg19) ; chr15:g.43599966G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43599966G>C , CM000677.2:g.43599966G>C	GRCh38
NC_000015.9:g.43892164G>C , CM000677.1:g.43892164G>C	GRCh37
NC_000015.8:g.41679456G>C	NCBI36
NG_011636.1:g.23835C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.5233C>G (STRC) MANE Select	ENSP00000401513.2:p.Gln1745Glu
ENST00000411560.1:n.142+433G>C (CKMT1B)
ENST00000428650.5:c.*2266C>G (STRC)	ENSP00000415991.1:n.*2266C>G
ENST00000440125.5:c.*3025C>G (STRC)	ENSP00000394866.1:n.*3025C>G
ENST00000448437.6:n.2353C>G (STRC)
ENST00000450892.6:c.5233C>G (STRC)	ENSP00000401513.2:p.Gln1745Glu
ENST00000471703.5:n.3187C>G (STRC)
ENST00000485556.5:n.4088C>G (STRC)
ENST00000541030.5:c.2914C>G (STRC)	ENSP00000440413.1:p.Gln972Glu
NM_153700.2:c.5233C>G (STRC) MANE Select	NP_714544.1:p.Gln1745Glu
XM_011521277.1:c.5722C>G (STRC)	XP_011519579.1:p.Gln1908Glu
XM_011521278.1:c.5338C>G (STRC)	XP_011519580.1:p.Gln1780Glu
XM_011521279.1:c.5338C>G (STRC)	XP_011519581.1:p.Gln1780Glu