Canonical Allele Identifier: CA16511009

Gene: CEMIP MESD

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80947371A>G , CM000677.2:g.80947371A>G	GRCh38
NC_000015.9:g.81239712A>G , CM000677.1:g.81239712A>G	GRCh37
NC_000015.8:g.79026767A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001293298.2:c.3958+306A>G (CEMIP) MANE Select	NP_001280227.1:n.3958+306A>G
ENST00000394685.8:c.3958+306A>G (CEMIP) MANE Select	ENSP00000378177.3:n.3958+306A>G
NM_001293298.1:c.3958+306A>G (CEMIP)	NP_001280227.1:n.3958+306A>G
NM_001293304.1:c.3958+306A>G (CEMIP)	NP_001280233.1:n.3958+306A>G
NM_001293304.2:c.3958+306A>G (CEMIP)	NP_001280233.1:n.3958+306A>G
NM_018689.2:c.3958+306A>G (CEMIP)	NP_061159.1:n.3958+306A>G
NM_018689.3:c.3958+306A>G (CEMIP)	NP_061159.1:n.3958+306A>G
NR_126327.1:n.2946T>C (MESD)
NR_126327.2:n.2887T>C (MESD)
NR_126328.1:n.2166T>C (MESD)
NR_126328.2:n.2107T>C (MESD)
ENST00000220244.7:c.3958+306A>G (CEMIP)	ENSP00000220244.3:n.3958+306A>G
ENST00000356249.9:c.3958+306A>G (CEMIP)	ENSP00000348583.5:n.3958+306A>G
ENST00000394685.7:c.3958+306A>G (CEMIP)	ENSP00000378177.3:n.3958+306A>G
ENST00000559966.1:n.122+306A>G (CEMIP)
ENST00000561312.5:c.*2154T>C (MESD)	ENSP00000453430.1:n.*2154T>C
ENST00000611615.1:c.2934-1431A>G (CEMIP)	ENSP00000480324.1:n.2934-1431A>G
ENST00000619987.4:c.*2154T>C (MESD)	ENSP00000482455.1:n.*2154T>C
XM_024450001.1:c.4063+306A>G (CEMIP)	XP_024305769.1:n.4063+306A>G