Canonical Allele Identifier: CA2628140754

Gene: CKMT1B STRC

Linked Data

• gnomAD v4: 15-43599403-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43599403T>G , CM000677.2:g.43599403T>G	GRCh38
NC_000015.9:g.43891601T>G , CM000677.1:g.43891601T>G	GRCh37
NC_000015.8:g.41678893T>G	NCBI36
NG_011636.1:g.24398A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441322.6:c.*130T>G (CKMT1B) MANE Select	ENSP00000413255.2:n.*130T>G
ENST00000300283.10:c.*130T>G (CKMT1B)	ENSP00000300283.6:n.*130T>G
ENST00000411560.1:n.12T>G (CKMT1B)
ENST00000437534.3:c.*1304T>G (CKMT1B)	ENSP00000416717.1:n.*1304T>G
ENST00000441322.5:c.*130T>G (CKMT1B)	ENSP00000413255.1:n.*130T>G
ENST00000450892.6:c.*269A>C (STRC)	ENSP00000401513.2:n.*269A>C
NM_020990.3:c.*130T>G (CKMT1B)	NP_066270.1:n.*130T>G
XM_005254150.3:c.*130T>G (CKMT1B)	XP_005254207.1:n.*130T>G
XM_011521194.1:c.*130T>G (CKMT1B)	XP_011519496.1:n.*130T>G
XM_011521195.1:c.*130T>G (CKMT1B)	XP_011519497.1:n.*130T>G
XM_011521196.1:c.*130T>G (CKMT1B)	XP_011519498.1:n.*130T>G
XM_011521197.1:c.*130T>G (CKMT1B)	XP_011519499.1:n.*130T>G
XM_011521198.1:c.*130T>G (CKMT1B)	XP_011519500.1:n.*130T>G
XM_011521277.1:c.*269A>C (STRC)	XP_011519579.1:n.*269A>C
XM_011521278.1:c.*269A>C (STRC)	XP_011519580.1:n.*269A>C
XM_011521279.1:c.*269A>C (STRC)	XP_011519581.1:n.*269A>C
NM_020990.4:c.*130T>G (CKMT1B)	NP_066270.1:n.*130T>G
NR_135748.1:n.2839T>G (CKMT1B)
NR_135749.1:n.2819T>G (CKMT1B)
NR_135750.1:n.2790T>G (CKMT1B)
NR_135751.1:n.2679T>G (CKMT1B)
NR_135752.1:n.2446T>G (CKMT1B)
XM_005254150.4:c.*130T>G (CKMT1B)	XP_005254207.1:n.*130T>G
XM_011521195.2:c.*130T>G (CKMT1B)	XP_011519497.1:n.*130T>G
XM_011521197.2:c.*130T>G (CKMT1B)	XP_011519499.1:n.*130T>G
XM_011521199.2:c.*130T>G (CKMT1B)	XP_011519501.2:n.*130T>G
XM_017021902.1:c.*130T>G (CKMT1B)	XP_016877391.1:n.*130T>G
NM_001375484.1:c.*130T>G (CKMT1B) MANE Select	NP_001362413.1:n.*130T>G
NM_020990.5:c.*130T>G (CKMT1B)	NP_066270.1:n.*130T>G
NR_135750.2:n.2790T>G (CKMT1B)