Canonical Allele Identifier: CA365653757

Gene: ARG1 MED23

Linked Data

• ClinVar Variation Id: 1438236
• ClinVar RCV Id: RCV001957796 ; RCV003289272
• dbSNP Id: rs2114551786
• gnomAD v4: 6-131583882-A-G
• MyVariant Identifiers: chr6:g.131905022A>G (hg19) ; chr6:g.131583882A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583882A>G , CM000668.2:g.131583882A>G	GRCh38
NC_000006.11:g.131905022A>G , CM000668.1:g.131905022A>G	GRCh37
NC_000006.10:g.131946715A>G	NCBI36
NG_007086.2:g.15658A>G
NG_031860.1:g.49342T>C
NG_031860.2:g.49342T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368087.8:c.943A>G (ARG1) MANE Select	ENSP00000357066.3:p.Ile315Val
ENST00000640973.1:c.685A>G (ARG1)	ENSP00000492623.1:p.Ile229Val
ENST00000672233.1:c.889A>G (ARG1)	ENSP00000499826.1:p.Ile297Val
ENST00000673234.1:c.*830A>G (ARG1)	ENSP00000499885.1:n.*830A>G
ENST00000673427.1:c.688A>G (ARG1)	ENSP00000500160.1:p.Ile230Val
ENST00000354577.8:c.4095+3827T>C (MED23)	ENSP00000346588.4:n.4095+3827T>C
ENST00000356962.2:c.967A>G (ARG1)	ENSP00000349446.2:p.Ile323Val
ENST00000368087.7:c.943A>G (ARG1)	ENSP00000357066.3:p.Ile315Val
NM_000045.3:c.943A>G (ARG1)	NP_000036.2:p.Ile315Val
NM_001244438.1:c.967A>G (ARG1)	NP_001231367.1:p.Ile323Val
NM_001270521.1:c.4077+3827T>C (MED23)	NP_001257450.1:n.4077+3827T>C
NM_015979.3:c.4095+3827T>C (MED23)	NP_057063.2:n.4095+3827T>C
XM_011535801.1:c.688A>G (ARG1)	XP_011534103.1:p.Ile230Val
XM_011535801.2:c.688A>G (ARG1)	XP_011534103.1:p.Ile230Val
NM_000045.4:c.943A>G (ARG1) MANE Select	NP_000036.2:p.Ile315Val
NM_001244438.2:c.967A>G (ARG1)	NP_001231367.1:p.Ile323Val
NM_001270521.2:c.4077+3827T>C (MED23)	NP_001257450.1:n.4077+3827T>C
NM_001369020.1:c.688A>G (ARG1)	NP_001355949.1:p.Ile230Val
NM_015979.4:c.4095+3827T>C (MED23)	NP_057063.2:n.4095+3827T>C
NR_160934.1:n.927A>G (ARG1)