Canonical Allele Identifier: CA969211830

Gene: CKMT1B STRC

Linked Data

• dbSNP Id: rs2085645579
• gnomAD v3: 15-43599394-T-C
• gnomAD v4: 15-43599394-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43599394T>C , CM000677.2:g.43599394T>C	GRCh38
NC_000015.9:g.43891592T>C , CM000677.1:g.43891592T>C	GRCh37
NC_000015.8:g.41678884T>C	NCBI36
NG_011636.1:g.24407A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441322.6:c.*121T>C (CKMT1B) MANE Select	ENSP00000413255.2:n.*121T>C
ENST00000300283.10:c.*121T>C (CKMT1B)	ENSP00000300283.6:n.*121T>C
ENST00000411560.1:n.3T>C (CKMT1B)
ENST00000437534.3:c.*1295T>C (CKMT1B)	ENSP00000416717.1:n.*1295T>C
ENST00000441322.5:c.*121T>C (CKMT1B)	ENSP00000413255.1:n.*121T>C
NM_020990.3:c.*121T>C (CKMT1B)	NP_066270.1:n.*121T>C
XM_005254150.3:c.*121T>C (CKMT1B)	XP_005254207.1:n.*121T>C
XM_011521194.1:c.*121T>C (CKMT1B)	XP_011519496.1:n.*121T>C
XM_011521195.1:c.*121T>C (CKMT1B)	XP_011519497.1:n.*121T>C
XM_011521196.1:c.*121T>C (CKMT1B)	XP_011519498.1:n.*121T>C
XM_011521197.1:c.*121T>C (CKMT1B)	XP_011519499.1:n.*121T>C
XM_011521198.1:c.*121T>C (CKMT1B)	XP_011519500.1:n.*121T>C
XM_011521277.1:c.*278A>G (STRC)	XP_011519579.1:n.*278A>G
XM_011521278.1:c.*278A>G (STRC)	XP_011519580.1:n.*278A>G
XM_011521279.1:c.*278A>G (STRC)	XP_011519581.1:n.*278A>G
NM_020990.4:c.*121T>C (CKMT1B)	NP_066270.1:n.*121T>C
NR_135748.1:n.2830T>C (CKMT1B)
NR_135749.1:n.2810T>C (CKMT1B)
NR_135750.1:n.2781T>C (CKMT1B)
NR_135751.1:n.2670T>C (CKMT1B)
NR_135752.1:n.2437T>C (CKMT1B)
XM_005254150.4:c.*121T>C (CKMT1B)	XP_005254207.1:n.*121T>C
XM_011521195.2:c.*121T>C (CKMT1B)	XP_011519497.1:n.*121T>C
XM_011521197.2:c.*121T>C (CKMT1B)	XP_011519499.1:n.*121T>C
XM_011521199.2:c.*121T>C (CKMT1B)	XP_011519501.2:n.*121T>C
XM_017021902.1:c.*121T>C (CKMT1B)	XP_016877391.1:n.*121T>C
NM_001375484.1:c.*121T>C (CKMT1B) MANE Select	NP_001362413.1:n.*121T>C
NM_020990.5:c.*121T>C (CKMT1B)	NP_066270.1:n.*121T>C
NR_135750.2:n.2781T>C (CKMT1B)