Canonical Allele Identifier: CA14087326

Gene: CEMIP

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80925950A>G , CM000677.2:g.80925950A>G	GRCh38
NC_000015.9:g.81218291A>G , CM000677.1:g.81218291A>G	GRCh37
NC_000015.8:g.79005346A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001293298.2:c.2420+195A>G MANE Select	NP_001280227.1:n.2420+195A>G
ENST00000394685.8:c.2420+195A>G MANE Select	ENSP00000378177.3:n.2420+195A>G
NM_001293298.1:c.2420+195A>G	NP_001280227.1:n.2420+195A>G
NM_001293304.1:c.2420+195A>G	NP_001280233.1:n.2420+195A>G
NM_001293304.2:c.2420+195A>G	NP_001280233.1:n.2420+195A>G
NM_018689.2:c.2420+195A>G	NP_061159.1:n.2420+195A>G
NM_018689.3:c.2420+195A>G	NP_061159.1:n.2420+195A>G
ENST00000220244.7:c.2420+195A>G	ENSP00000220244.3:n.2420+195A>G
ENST00000356249.9:c.2420+195A>G	ENSP00000348583.5:n.2420+195A>G
ENST00000394685.7:c.2420+195A>G	ENSP00000378177.3:n.2420+195A>G
ENST00000611615.1:c.2420+195A>G	ENSP00000480324.1:n.2420+195A>G
XM_024450001.1:c.2525+195A>G	XP_024305769.1:n.2525+195A>G