Canonical Allele Identifier: CA397091686
Community Standard Title: NM_000485.3(APRT):c.2T>C (p.Met1Thr)
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88811898A>G , CM000678.2:g.88811898A>G GRCh38
NC_000016.9:g.88878306A>G , CM000678.1:g.88878306A>G GRCh37
NC_000016.8:g.87405807A>G NCBI36
NG_008013.1:g.5037T>C
NG_008667.1:g.50069T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000485.3:c.2T>C MANE Select NP_000476.1:p.Met1Thr
ENST00000378364.8:c.2T>C MANE Select ENSP00000367615.3:p.Met1Thr
NM_000485.2:c.2T>C NP_000476.1:p.Met1Thr
NM_001030018.1:c.2T>C NP_001025189.1:p.Met1Thr
NM_001030018.2:c.2T>C NP_001025189.1:p.Met1Thr
ENST00000378364.7:c.2T>C ENSP00000367615.3:p.Met1Thr
ENST00000426324.6:c.2T>C ENSP00000397007.2:p.Met1Thr
ENST00000563655.5:c.2T>C ENSP00000456012.1:p.Met1Thr
ENST00000564858.1:n.23T>C
ENST00000567391.5:c.2T>C ENSP00000457964.1:p.Met1Thr
ENST00000567713.5:c.2T>C ENSP00000455749.1:p.Met1Thr
ENST00000568319.5:c.2T>C ENSP00000456905.1:p.Met1Thr