Canonical Allele Identifier: CA273365858
Community Standard Title: NM_001293298.2(CEMIP):c.3858-208T>C

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80946757T>C , CM000677.2:g.80946757T>C GRCh38
NC_000015.9:g.81239098T>C , CM000677.1:g.81239098T>C GRCh37
NC_000015.8:g.79026153T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001293298.2:c.3858-208T>C (CEMIP) MANE Select NP_001280227.1:n.3858-208T>C
ENST00000394685.8:c.3858-208T>C (CEMIP) MANE Select ENSP00000378177.3:n.3858-208T>C
NM_001293298.1:c.3858-208T>C (CEMIP) NP_001280227.1:n.3858-208T>C
NM_001293304.1:c.3858-208T>C (CEMIP) NP_001280233.1:n.3858-208T>C
NM_001293304.2:c.3858-208T>C (CEMIP) NP_001280233.1:n.3858-208T>C
NM_018689.2:c.3858-208T>C (CEMIP) NP_061159.1:n.3858-208T>C
NM_018689.3:c.3858-208T>C (CEMIP) NP_061159.1:n.3858-208T>C
NR_126327.2:n.3501A>G (MESD)
NR_126328.2:n.2721A>G (MESD)
ENST00000220244.7:c.3858-208T>C (CEMIP) ENSP00000220244.3:n.3858-208T>C
ENST00000356249.9:c.3858-208T>C (CEMIP) ENSP00000348583.5:n.3858-208T>C
ENST00000394685.7:c.3858-208T>C (CEMIP) ENSP00000378177.3:n.3858-208T>C
ENST00000611615.1:c.2934-2045T>C (CEMIP) ENSP00000480324.1:n.2934-2045T>C
ENST00000619987.4:c.*2768A>G (MESD) ENSP00000482455.1:n.*2768A>G
XM_024450001.1:c.3963-208T>C (CEMIP) XP_024305769.1:n.3963-208T>C