Canonical Allele Identifier: CA273361053
Community Standard Title: NM_001293298.2(CEMIP):c.3699+156C>T
Gene: CEMIP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80942493C>T , CM000677.2:g.80942493C>T GRCh38
NC_000015.9:g.81234834C>T , CM000677.1:g.81234834C>T GRCh37
NC_000015.8:g.79021889C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001293298.2:c.3699+156C>T MANE Select NP_001280227.1:n.3699+156C>T
ENST00000394685.8:c.3699+156C>T MANE Select ENSP00000378177.3:n.3699+156C>T
NM_001293298.1:c.3699+156C>T NP_001280227.1:n.3699+156C>T
NM_001293304.1:c.3699+156C>T NP_001280233.1:n.3699+156C>T
NM_001293304.2:c.3699+156C>T NP_001280233.1:n.3699+156C>T
NM_018689.2:c.3699+156C>T NP_061159.1:n.3699+156C>T
NM_018689.3:c.3699+156C>T NP_061159.1:n.3699+156C>T
ENST00000220244.7:c.3699+156C>T ENSP00000220244.3:n.3699+156C>T
ENST00000356249.9:c.3699+156C>T ENSP00000348583.5:n.3699+156C>T
ENST00000394685.7:c.3699+156C>T ENSP00000378177.3:n.3699+156C>T
ENST00000495041.1:c.288+156C>T
ENST00000611615.1:c.2934-6309C>T ENSP00000480324.1:n.2934-6309C>T
XM_024450001.1:c.3804+156C>T XP_024305769.1:n.3804+156C>T