Canonical Allele Identifier: CA392156370

Gene: CKMT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43598921T>G , CM000677.2:g.43598921T>G	GRCh38
NC_000015.9:g.43891119T>G , CM000677.1:g.43891119T>G	GRCh37
NC_000015.8:g.41678411T>G	NCBI36
NG_011636.1:g.24880A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441322.6:c.1106T>G MANE Select	ENSP00000413255.2:p.Ile369Ser
ENST00000300283.10:c.1106T>G	ENSP00000300283.6:p.Ile369Ser
ENST00000437534.3:c.*1026T>G	ENSP00000416717.1:n.*1026T>G
ENST00000441322.5:c.1106T>G	ENSP00000413255.1:p.Ile369Ser
NM_020990.3:c.1106T>G	NP_066270.1:p.Ile369Ser
XM_005254150.3:c.629T>G	XP_005254207.1:p.Ile210Ser
XM_011521194.1:c.1199T>G	XP_011519496.1:p.Ile400Ser
XM_011521195.1:c.1199T>G	XP_011519497.1:p.Ile400Ser
XM_011521196.1:c.1199T>G	XP_011519498.1:p.Ile400Ser
XM_011521197.1:c.1106T>G	XP_011519499.1:p.Ile369Ser
XM_011521198.1:c.983T>G	XP_011519500.1:p.Ile328Ser
NM_020990.4:c.1106T>G	NP_066270.1:p.Ile369Ser
NR_135748.1:n.2561T>G
NR_135749.1:n.2541T>G
NR_135750.1:n.2512T>G
NR_135751.1:n.2401T>G
NR_135752.1:n.2168T>G
XM_005254150.4:c.629T>G	XP_005254207.1:p.Ile210Ser
XM_011521195.2:c.1199T>G	XP_011519497.1:p.Ile400Ser
XM_011521197.2:c.1106T>G	XP_011519499.1:p.Ile369Ser
XM_011521199.2:c.629T>G	XP_011519501.2:p.Ile210Ser
XM_017021902.1:c.629T>G	XP_016877391.1:p.Ile210Ser
NM_001375484.1:c.1106T>G MANE Select	NP_001362413.1:p.Ile369Ser
NM_020990.5:c.1106T>G	NP_066270.1:p.Ile369Ser
NR_135750.2:n.2512T>G