Canonical Allele Identifier: CA1664137593

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131583579C= , CM000668.2:g.131583579C= GRCh38
NC_000006.11:g.131904719C= , CM000668.1:g.131904719C= GRCh37
NC_000006.10:g.131946412C= NCBI36
NG_007086.2:g.15355C=
NG_031860.1:g.49645G=
NG_031860.2:g.49645G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368087.8:c.802+88C= (ARG1) MANE Select ENSP00000357066.3:n.802+88C=
ENST00000640973.1:c.605-223C= (ARG1) ENSP00000492623.1:n.605-223C=
ENST00000672233.1:c.748+88C= (ARG1) ENSP00000499826.1:n.748+88C=
ENST00000673234.1:c.*689+88C= (ARG1) ENSP00000499885.1:n.*689+88C=
ENST00000673427.1:c.547+88C= (ARG1) ENSP00000500160.1:n.547+88C=
ENST00000354577.8:c.4095+4130G= (MED23) ENSP00000346588.4:n.4095+4130G=
ENST00000356962.2:c.826+88C= (ARG1) ENSP00000349446.2:n.826+88C=
ENST00000368087.7:c.802+88C= (ARG1) ENSP00000357066.3:n.802+88C=
NM_000045.3:c.802+88C= (ARG1) NP_000036.2:n.802+88C=
NM_001244438.1:c.826+88C= (ARG1) NP_001231367.1:n.826+88C=
NM_001270521.1:c.4077+4130G= (MED23) NP_001257450.1:n.4077+4130G=
NM_015979.3:c.4095+4130G= (MED23) NP_057063.2:n.4095+4130G=
XM_011535801.1:c.547+88C= (ARG1) XP_011534103.1:n.547+88C=
XM_011535801.2:c.547+88C= (ARG1) XP_011534103.1:n.547+88C=
NM_000045.4:c.802+88C= (ARG1) MANE Select NP_000036.2:n.802+88C=
NM_001244438.2:c.826+88C= (ARG1) NP_001231367.1:n.826+88C=
NM_001270521.2:c.4077+4130G= (MED23) NP_001257450.1:n.4077+4130G=
NM_001369020.1:c.547+88C= (ARG1) NP_001355949.1:n.547+88C=
NM_015979.4:c.4095+4130G= (MED23) NP_057063.2:n.4095+4130G=
NR_160934.1:n.786+88C= (ARG1)