Canonical Allele Identifier: CA14203249

Gene: CEMIP

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80889674T>A , CM000677.2:g.80889674T>A	GRCh38
NC_000015.9:g.81182015T>A , CM000677.1:g.81182015T>A	GRCh37
NC_000015.8:g.78969070T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001293298.2:c.1086+82T>A MANE Select	NP_001280227.1:n.1086+82T>A
ENST00000394685.8:c.1086+82T>A MANE Select	ENSP00000378177.3:n.1086+82T>A
NM_001293298.1:c.1086+82T>A	NP_001280227.1:n.1086+82T>A
NM_001293304.1:c.1086+82T>A	NP_001280233.1:n.1086+82T>A
NM_001293304.2:c.1086+82T>A	NP_001280233.1:n.1086+82T>A
NM_018689.2:c.1086+82T>A	NP_061159.1:n.1086+82T>A
NM_018689.3:c.1086+82T>A	NP_061159.1:n.1086+82T>A
ENST00000220244.7:c.1086+82T>A	ENSP00000220244.3:n.1086+82T>A
ENST00000356249.9:c.1086+82T>A	ENSP00000348583.5:n.1086+82T>A
ENST00000394685.7:c.1086+82T>A	ENSP00000378177.3:n.1086+82T>A
ENST00000611615.1:c.1086+82T>A	ENSP00000480324.1:n.1086+82T>A
XM_024450001.1:c.1191+82T>A	XP_024305769.1:n.1191+82T>A