Canonical Allele Identifier: CA482939185
Community Standard Title: NM_005932.4(MIPEP):c.153C>T (p.Pro51=)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23889168G>A , CM000675.2:g.23889168G>A GRCh38
NC_000013.10:g.24463307G>A , CM000675.1:g.24463307G>A GRCh37
NC_000013.9:g.23361307G>A NCBI36
NG_052977.1:g.5281C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005932.4:c.153C>T (MIPEP) MANE Select NP_005923.3:p.Pro51=
ENST00000382172.4:c.153C>T (MIPEP) MANE Select ENSP00000371607.3:p.Pro51=
NM_001014442.2:c.-186+157G>A (PCOTH) NP_001014442.2:n.-186+157G>A
NM_001014442.3:c.-186+157G>A (PCOTH) NP_001014442.2:n.-186+157G>A
NM_001014442.4:c.-186+157G>A (PCOTH) NP_001014442.2:n.-186+157G>A
NM_005932.3:c.153C>T (MIPEP) NP_005923.2:p.Pro51=
NR_172510.1:n.144+157G>A (PCOTH)
ENST00000382172.3:c.153C>T (MIPEP) ENSP00000371607.3:p.Pro51=
ENST00000469167.1:n.231C>T (MIPEP)
XM_011535098.1:c.153C>T (MIPEP) XP_011533400.1:p.Pro51=
XM_011535098.3:c.153C>T (MIPEP) XP_011533400.1:p.Pro51=