Canonical Allele Identifier: CA14203255

Gene: CEMIP

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80937093C>T , CM000677.2:g.80937093C>T	GRCh38
NC_000015.9:g.81229434C>T , CM000677.1:g.81229434C>T	GRCh37
NC_000015.8:g.79016489C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001293298.2:c.3221+208C>T MANE Select	NP_001280227.1:n.3221+208C>T
ENST00000394685.8:c.3221+208C>T MANE Select	ENSP00000378177.3:n.3221+208C>T
NM_001293298.1:c.3221+208C>T	NP_001280227.1:n.3221+208C>T
NM_001293304.1:c.3221+208C>T	NP_001280233.1:n.3221+208C>T
NM_001293304.2:c.3221+208C>T	NP_001280233.1:n.3221+208C>T
NM_018689.2:c.3221+208C>T	NP_061159.1:n.3221+208C>T
NM_018689.3:c.3221+208C>T	NP_061159.1:n.3221+208C>T
ENST00000220244.7:c.3221+208C>T	ENSP00000220244.3:n.3221+208C>T
ENST00000356249.9:c.3221+208C>T	ENSP00000348583.5:n.3221+208C>T
ENST00000394685.7:c.3221+208C>T	ENSP00000378177.3:n.3221+208C>T
ENST00000495041.1:c.15+208C>T
ENST00000560027.1:c.247+208C>T
ENST00000611615.1:c.2933+3709C>T	ENSP00000480324.1:n.2933+3709C>T
XM_024450001.1:c.3326+208C>T	XP_024305769.1:n.3326+208C>T