Canonical Allele Identifier: CA3214067
Community Standard Title: NM_004061.5(CDH12):c.1141C>A (p.Pro381Thr)
Gene: CDH12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.21802282G>T , CM000667.2:g.21802282G>T GRCh38
NC_000005.9:g.21802391G>T , CM000667.1:g.21802391G>T GRCh37
NC_000005.8:g.21838148G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_004061.5:c.1141C>A MANE Select NP_004052.2:p.Pro381Thr
ENST00000382254.6:c.1141C>A MANE Select ENSP00000371689.1:p.Pro381Thr
NM_001317227.1:c.1141C>A NP_001304156.1:p.Pro381Thr
NM_001317227.2:c.1141C>A NP_001304156.1:p.Pro381Thr
NM_001317228.1:c.1021C>A NP_001304157.1:p.Pro341Thr
NM_001364104.1:c.1141C>A NP_001351033.1:p.Pro381Thr
NM_001364104.2:c.1141C>A NP_001351033.1:p.Pro381Thr
NM_001364105.1:c.1141C>A NP_001351034.1:p.Pro381Thr
NM_001364105.2:c.1141C>A NP_001351034.1:p.Pro381Thr
NM_001364106.1:c.1141C>A NP_001351035.1:p.Pro381Thr
NM_001364106.2:c.1141C>A NP_001351035.1:p.Pro381Thr
NM_001364107.1:c.1141C>A NP_001351036.1:p.Pro381Thr
NM_001364107.2:c.1141C>A NP_001351036.1:p.Pro381Thr
NM_001364108.1:c.1141C>A NP_001351037.1:p.Pro381Thr
NM_001364108.2:c.1141C>A NP_001351037.1:p.Pro381Thr
NM_001364109.1:c.469C>A NP_001351038.1:p.Pro157Thr
NM_001364109.2:c.469C>A NP_001351038.1:p.Pro157Thr
NM_004061.3:c.1141C>A NP_004052.2:p.Pro381Thr
NM_004061.4:c.1141C>A NP_004052.2:p.Pro381Thr
ENST00000382254.5:c.1141C>A ENSP00000371689.1:p.Pro381Thr
ENST00000504376.6:c.1141C>A ENSP00000423577.1:p.Pro381Thr
ENST00000517378.1:n.1599C>A
ENST00000521384.5:n.878C>A
ENST00000522262.1:c.1021C>A ENSP00000428786.1:p.Pro341Thr
ENST00000619694.4:c.1141C>A ENSP00000480493.1:p.Pro381Thr
XM_011513927.1:c.1141C>A XP_011512229.1:p.Pro381Thr