Canonical Allele Identifier: CA387532456

Gene: MIPEP PCOTH

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23889133C>A , CM000675.2:g.23889133C>A	GRCh38
NC_000013.10:g.24463272C>A , CM000675.1:g.24463272C>A	GRCh37
NC_000013.9:g.23361272C>A	NCBI36
NG_052977.1:g.5316G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005932.4:c.188G>T (MIPEP) MANE Select	NP_005923.3:p.Arg63Leu
ENST00000382172.4:c.188G>T (MIPEP) MANE Select	ENSP00000371607.3:p.Arg63Leu
NM_001014442.2:c.-186+122C>A (PCOTH)	NP_001014442.2:n.-186+122C>A
NM_001014442.3:c.-186+122C>A (PCOTH)	NP_001014442.2:n.-186+122C>A
NM_001014442.4:c.-186+122C>A (PCOTH)	NP_001014442.2:n.-186+122C>A
NM_005932.3:c.188G>T (MIPEP)	NP_005923.2:p.Arg63Leu
NR_172510.1:n.144+122C>A (PCOTH)
ENST00000382172.3:c.188G>T (MIPEP)	ENSP00000371607.3:p.Arg63Leu
ENST00000469167.1:n.266G>T (MIPEP)
XM_011535098.1:c.188G>T (MIPEP)	XP_011533400.1:p.Arg63Leu
XM_011535098.3:c.188G>T (MIPEP)	XP_011533400.1:p.Arg63Leu