Canonical Allele Identifier: CA3999193

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131579157T>A , CM000668.2:g.131579157T>A GRCh38
NC_000006.11:g.131900297T>A , CM000668.1:g.131900297T>A GRCh37
NC_000006.10:g.131941990T>A NCBI36
NG_007086.2:g.10933T>A
NG_031860.1:g.54067A>T
NG_031860.2:g.54067A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368087.8:c.177T>A (ARG1) MANE Select ENSP00000357066.3:p.Pro59=
ENST00000640973.1:c.177T>A (ARG1) ENSP00000492623.1:p.Pro59=
ENST00000672052.1:n.424T>A (ARG1)
ENST00000672233.1:c.123T>A (ARG1) ENSP00000499826.1:p.Pro41=
ENST00000673234.1:c.*64T>A (ARG1) ENSP00000499885.1:n.*64T>A
ENST00000673427.1:c.177T>A (ARG1) ENSP00000500160.1:p.Pro59=
ENST00000275196.5:n.161T>A (ARG1)
ENST00000354577.8:c.4096-4862A>T (MED23) ENSP00000346588.4:n.4096-4862A>T
ENST00000356962.2:c.201T>A (ARG1) ENSP00000349446.2:p.Pro67=
ENST00000368087.7:c.177T>A (ARG1) ENSP00000357066.3:p.Pro59=
ENST00000469293.1:n.193T>A (ARG1)
ENST00000484820.1:n.149T>A (ARG1)
ENST00000498260.1:n.218T>A (ARG1)
NM_000045.3:c.177T>A (ARG1) NP_000036.2:p.Pro59=
NM_001244438.1:c.201T>A (ARG1) NP_001231367.1:p.Pro67=
NM_001270521.1:c.4078-4862A>T (MED23) NP_001257450.1:n.4078-4862A>T
NM_015979.3:c.4096-4862A>T (MED23) NP_057063.2:n.4096-4862A>T
XM_011535801.1:c.177T>A (ARG1) XP_011534103.1:p.Pro59=
XM_011535801.2:c.177T>A (ARG1) XP_011534103.1:p.Pro59=
NM_000045.4:c.177T>A (ARG1) MANE Select NP_000036.2:p.Pro59=
NM_001244438.2:c.201T>A (ARG1) NP_001231367.1:p.Pro67=
NM_001270521.2:c.4078-4862A>T (MED23) NP_001257450.1:n.4078-4862A>T
NM_001369020.1:c.177T>A (ARG1) NP_001355949.1:p.Pro59=
NM_015979.4:c.4096-4862A>T (MED23) NP_057063.2:n.4096-4862A>T
NR_160934.1:n.161T>A (ARG1)