Canonical Allele Identifier: CA339970

Linked Data

ClinVar Variation Id: 2389
ClinVar RCV Id: RCV000002490
dbSNP Id: rs104893942

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131583808C>G , CM000668.2:g.131583808C>G GRCh38
NC_000006.11:g.131904948C>G , CM000668.1:g.131904948C>G GRCh37
NC_000006.10:g.131946641C>G NCBI36
NG_007086.2:g.15584C>G
NG_031860.1:g.49416G>C
NG_031860.2:g.49416G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368087.8:c.869C>G (ARG1) MANE Select ENSP00000357066.3:p.Thr290Ser
ENST00000640973.1:c.611C>G (ARG1) ENSP00000492623.1:p.Thr204Ser
ENST00000672233.1:c.815C>G (ARG1) ENSP00000499826.1:p.Thr272Ser
ENST00000673234.1:c.*756C>G (ARG1) ENSP00000499885.1:n.*756C>G
ENST00000673427.1:c.614C>G (ARG1) ENSP00000500160.1:p.Thr205Ser
ENST00000354577.8:c.4095+3901G>C (MED23) ENSP00000346588.4:n.4095+3901G>C
ENST00000356962.2:c.893C>G (ARG1) ENSP00000349446.2:p.Thr298Ser
ENST00000368087.7:c.869C>G (ARG1) ENSP00000357066.3:p.Thr290Ser
NM_000045.3:c.869C>G (ARG1) NP_000036.2:p.Thr290Ser
NM_001244438.1:c.893C>G (ARG1) NP_001231367.1:p.Thr298Ser
NM_001270521.1:c.4077+3901G>C (MED23) NP_001257450.1:n.4077+3901G>C
NM_015979.3:c.4095+3901G>C (MED23) NP_057063.2:n.4095+3901G>C
XM_011535801.1:c.614C>G (ARG1) XP_011534103.1:p.Thr205Ser
XM_011535801.2:c.614C>G (ARG1) XP_011534103.1:p.Thr205Ser
NM_000045.4:c.869C>G (ARG1) MANE Select NP_000036.2:p.Thr290Ser
NM_001244438.2:c.893C>G (ARG1) NP_001231367.1:p.Thr298Ser
NM_001270521.2:c.4077+3901G>C (MED23) NP_001257450.1:n.4077+3901G>C
NM_001369020.1:c.614C>G (ARG1) NP_001355949.1:p.Thr205Ser
NM_015979.4:c.4095+3901G>C (MED23) NP_057063.2:n.4095+3901G>C
NR_160934.1:n.853C>G (ARG1)