Canonical Allele Identifier: CA365648974
Community Standard Title: NM_000045.4(ARG1):c.2T>C (p.Met1Thr)
Gene: ARG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131573284T>C , CM000668.2:g.131573284T>C GRCh38
NC_000006.11:g.131894424T>C , CM000668.1:g.131894424T>C GRCh37
NC_000006.10:g.131936117T>C NCBI36
NG_007086.2:g.5060T>C
NG_031860.1:g.59940A>G
NG_031860.2:g.59940A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000045.4:c.2T>C MANE Select NP_000036.2:p.Met1Thr
ENST00000368087.8:c.2T>C MANE Select ENSP00000357066.3:p.Met1Thr
NM_000045.3:c.2T>C NP_000036.2:p.Met1Thr
NM_001244438.1:c.2T>C NP_001231367.1:p.Met1Thr
NM_001244438.2:c.2T>C NP_001231367.1:p.Met1Thr
NM_001369020.1:c.2T>C NP_001355949.1:p.Met1Thr
NR_160934.1:n.59T>C
ENST00000275196.5:n.59T>C
ENST00000356962.2:c.2T>C ENSP00000349446.2:p.Met1Thr
ENST00000368087.7:c.2T>C ENSP00000357066.3:p.Met1Thr
ENST00000469293.1:n.91T>C
ENST00000498260.1:n.43T>C
ENST00000640973.1:c.2T>C ENSP00000492623.1:p.Met1Thr
ENST00000672052.1:n.305-3379T>C
ENST00000672233.1:c.77-5827T>C ENSP00000499826.1:n.77-5827T>C
ENST00000673234.1:c.77-3379T>C ENSP00000499885.1:n.77-3379T>C
ENST00000673427.1:c.2T>C ENSP00000500160.1:p.Met1Thr
XM_011535801.1:c.2T>C XP_011534103.1:p.Met1Thr
XM_011535801.2:c.2T>C XP_011534103.1:p.Met1Thr