Canonical Allele Identifier: CA1664138111

Linked Data

dbSNP Id: rs1774076176

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131583988C>T , CM000668.2:g.131583988C>T GRCh38
NC_000006.11:g.131905128C>T , CM000668.1:g.131905128C>T GRCh37
NC_000006.10:g.131946821C>T NCBI36
NG_007086.2:g.15764C>T
NG_031860.1:g.49236G>A
NG_031860.2:g.49236G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368087.8:c.*80C>T (ARG1) MANE Select ENSP00000357066.3:n.*80C>T
ENST00000673234.1:c.*936C>T (ARG1) ENSP00000499885.1:n.*936C>T
ENST00000673427.1:c.*80C>T (ARG1) ENSP00000500160.1:n.*80C>T
ENST00000354577.8:c.4095+3721G>A (MED23) ENSP00000346588.4:n.4095+3721G>A
ENST00000356962.2:c.*80C>T (ARG1) ENSP00000349446.2:n.*80C>T
ENST00000368087.7:c.*80C>T (ARG1) ENSP00000357066.3:n.*80C>T
NM_000045.3:c.*80C>T (ARG1) NP_000036.2:n.*80C>T
NM_001244438.1:c.*80C>T (ARG1) NP_001231367.1:n.*80C>T
NM_001270521.1:c.4077+3721G>A (MED23) NP_001257450.1:n.4077+3721G>A
NM_015979.3:c.4095+3721G>A (MED23) NP_057063.2:n.4095+3721G>A
XM_011535801.1:c.*80C>T (ARG1) XP_011534103.1:n.*80C>T
XM_011535801.2:c.*80C>T (ARG1) XP_011534103.1:n.*80C>T
NM_000045.4:c.*80C>T (ARG1) MANE Select NP_000036.2:n.*80C>T
NM_001244438.2:c.*80C>T (ARG1) NP_001231367.1:n.*80C>T
NM_001270521.2:c.4077+3721G>A (MED23) NP_001257450.1:n.4077+3721G>A
NM_001369020.1:c.*80C>T (ARG1) NP_001355949.1:n.*80C>T
NM_015979.4:c.4095+3721G>A (MED23) NP_057063.2:n.4095+3721G>A
NR_160934.1:n.1033C>T (ARG1)