Canonical Allele Identifier: CA411747817
Community Standard Title: NM_024821.5(CCDC134):c.2T>C (p.Met1Thr)
Gene: CCDC134 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41808892T>C , CM000684.2:g.41808892T>C GRCh38
NC_000022.10:g.42204896T>C , CM000684.1:g.42204896T>C GRCh37
NC_000022.9:g.40534842T>C NCBI36
NG_068430.1:g.13214T>C

Transcript Alleles

HGVS Amino-acid Change
NM_024821.5:c.2T>C MANE Select NP_079097.1:p.Met1Thr
ENST00000255784.6:c.2T>C MANE Select ENSP00000255784.5:p.Met1Thr
NM_001304797.1:c.2T>C NP_001291726.1:p.Met1Thr
NM_001304797.2:c.2T>C NP_001291726.1:p.Met1Thr
NM_001382346.1:c.2T>C NP_001369275.1:p.Met1Thr
NM_024821.3:c.2T>C NP_079097.1:p.Met1Thr
NM_024821.4:c.2T>C NP_079097.1:p.Met1Thr
ENST00000255784.5:c.2T>C ENSP00000255784.5:p.Met1Thr
ENST00000402061.7:c.2T>C ENSP00000385803.3:p.Met1Thr
XM_005261748.2:c.2T>C XP_005261805.1:p.Met1Thr
XM_005261748.3:c.2T>C XP_005261805.1:p.Met1Thr