Canonical Allele Identifier: CA452153285

Linked Data

MyVariant Identifiers: chr6:g.131904898A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131583758A>G , CM000668.2:g.131583758A>G GRCh38
NC_000006.11:g.131904898A>G , CM000668.1:g.131904898A>G GRCh37
NC_000006.10:g.131946591A>G NCBI36
NG_007086.2:g.15534A>G
NG_031860.1:g.49466T>C
NG_031860.2:g.49466T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000368087.8:c.819A>G (ARG1) MANE Select ENSP00000357066.3:p.Leu273=
ENST00000640973.1:c.605-44A>G (ARG1) ENSP00000492623.1:n.605-44A>G
ENST00000672233.1:c.765A>G (ARG1) ENSP00000499826.1:p.Leu255=
ENST00000673234.1:c.*706A>G (ARG1) ENSP00000499885.1:n.*706A>G
ENST00000673427.1:c.564A>G (ARG1) ENSP00000500160.1:p.Leu188=
ENST00000354577.8:c.4095+3951T>C (MED23) ENSP00000346588.4:n.4095+3951T>C
ENST00000356962.2:c.843A>G (ARG1) ENSP00000349446.2:p.Leu281=
ENST00000368087.7:c.819A>G (ARG1) ENSP00000357066.3:p.Leu273=
NM_000045.3:c.819A>G (ARG1) NP_000036.2:p.Leu273=
NM_001244438.1:c.843A>G (ARG1) NP_001231367.1:p.Leu281=
NM_001270521.1:c.4077+3951T>C (MED23) NP_001257450.1:n.4077+3951T>C
NM_015979.3:c.4095+3951T>C (MED23) NP_057063.2:n.4095+3951T>C
XM_011535801.1:c.564A>G (ARG1) XP_011534103.1:p.Leu188=
XM_011535801.2:c.564A>G (ARG1) XP_011534103.1:p.Leu188=
NM_000045.4:c.819A>G (ARG1) MANE Select NP_000036.2:p.Leu273=
NM_001244438.2:c.843A>G (ARG1) NP_001231367.1:p.Leu281=
NM_001270521.2:c.4077+3951T>C (MED23) NP_001257450.1:n.4077+3951T>C
NM_001369020.1:c.564A>G (ARG1) NP_001355949.1:p.Leu188=
NM_015979.4:c.4095+3951T>C (MED23) NP_057063.2:n.4095+3951T>C
NR_160934.1:n.803A>G (ARG1)