Canonical Allele Identifier: CA6913449

Gene: MIPEP PCOTH

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23889281C>T , CM000675.2:g.23889281C>T	GRCh38
NC_000013.10:g.24463420C>T , CM000675.1:g.24463420C>T	GRCh37
NC_000013.9:g.23361420C>T	NCBI36
NG_052977.1:g.5168G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382172.4:c.40G>A (MIPEP) MANE Select	ENSP00000371607.3:p.Ala14Thr
ENST00000382172.3:c.40G>A (MIPEP)	ENSP00000371607.3:p.Ala14Thr
ENST00000469167.1:n.118G>A (MIPEP)
NM_001014442.2:c.-186+270C>T (PCOTH)	NP_001014442.2:n.-186+270C>T
NM_005932.3:c.40G>A (MIPEP)	NP_005923.2:p.Ala14Thr
XM_011535098.1:c.40G>A (MIPEP)	XP_011533400.1:p.Ala14Thr
NM_001014442.3:c.-186+270C>T (PCOTH)	NP_001014442.2:n.-186+270C>T
XM_011535098.3:c.40G>A (MIPEP)	XP_011533400.1:p.Ala14Thr
NM_005932.4:c.40G>A (MIPEP) MANE Select	NP_005923.3:p.Ala14Thr
NM_001014442.4:c.-186+270C>T (PCOTH)	NP_001014442.2:n.-186+270C>T
NR_172510.1:n.144+270C>T (PCOTH)