Canonical Allele Identifier: CA273366089

Gene: CEMIP MESD

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80947286C>T , CM000677.2:g.80947286C>T	GRCh38
NC_000015.9:g.81239627C>T , CM000677.1:g.81239627C>T	GRCh37
NC_000015.8:g.79026682C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394685.8:c.3958+221C>T (CEMIP) MANE Select	ENSP00000378177.3:n.3958+221C>T
ENST00000220244.7:c.3958+221C>T (CEMIP)	ENSP00000220244.3:n.3958+221C>T
ENST00000356249.9:c.3958+221C>T (CEMIP)	ENSP00000348583.5:n.3958+221C>T
ENST00000394685.7:c.3958+221C>T (CEMIP)	ENSP00000378177.3:n.3958+221C>T
ENST00000559966.1:n.122+221C>T (CEMIP)
ENST00000611615.1:c.2934-1516C>T (CEMIP)	ENSP00000480324.1:n.2934-1516C>T
ENST00000619987.4:c.*2239G>A (MESD)	ENSP00000482455.1:n.*2239G>A
NM_001293298.1:c.3958+221C>T (CEMIP)	NP_001280227.1:n.3958+221C>T
NM_001293304.1:c.3958+221C>T (CEMIP)	NP_001280233.1:n.3958+221C>T
NM_018689.2:c.3958+221C>T (CEMIP)	NP_061159.1:n.3958+221C>T
XM_024450001.1:c.4063+221C>T (CEMIP)	XP_024305769.1:n.4063+221C>T
NM_001293298.2:c.3958+221C>T (CEMIP) MANE Select	NP_001280227.1:n.3958+221C>T
NM_001293304.2:c.3958+221C>T (CEMIP)	NP_001280233.1:n.3958+221C>T
NM_018689.3:c.3958+221C>T (CEMIP)	NP_061159.1:n.3958+221C>T
NR_126327.2:n.2972G>A (MESD)
NR_126328.2:n.2192G>A (MESD)