Canonical Allele Identifier: CA345344523
Gene: DISC1 HGNC NCBI
TSNAX-DISC1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.232008854C>G , CM000663.2:g.232008854C>G GRCh38
NC_000001.10:g.232144600C>G , CM000663.1:g.232144600C>G GRCh37
NC_000001.9:g.230211223C>G NCBI36
NG_011681.1:g.387040C>G
NG_011681.2:g.387040C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366637.8:c.2112C>G (DISC1) ENSP00000355597.6:p.Ser704Arg
ENST00000439617.8:c.2112C>G (DISC1) MANE Select ENSP00000403888.4:p.Ser704Arg
ENST00000366637.7:c.2112C>G (DISC1) ENSP00000355597.5:p.Ser704Arg
ENST00000422590.6:c.*1973C>G (DISC1) ENSP00000415147.2:n.*1973C>G
ENST00000427560.1:n.377C>G (DISC1)
ENST00000439617.6:c.2112C>G (DISC1) ENSP00000403888.2:p.Ser704Arg
ENST00000535983.5:c.2051C>G (DISC1) ENSP00000443996.1:p.Ala684Gly
ENST00000620189.3:c.1746C>G (DISC1) ENSP00000482174.1:p.Ser582Arg
ENST00000622252.4:c.*653C>G (DISC1) ENSP00000481791.1:n.*653C>G
NM_001012957.1:c.2112C>G (DISC1) NP_001012975.1:p.Ser704Arg
NM_001164537.1:c.2208C>G (DISC1) NP_001158009.1:p.Ser736Arg
NM_001164538.1:c.2112C>G (DISC1) NP_001158010.1:p.Ser704Arg
NM_001164540.1:c.1746C>G (DISC1) NP_001158012.1:p.Ser582Arg
NM_001164541.1:c.2051C>G (DISC1) NP_001158013.1:p.Ala684Gly
NM_001164547.1:c.*85C>G (DISC1) NP_001158019.1:n.*85C>G
NM_018662.2:c.2112C>G (DISC1) NP_061132.2:p.Ser704Arg
NR_028393.1:n.2778C>G (TSNAX-DISC1)
NM_001012957.2:c.2112C>G (DISC1) NP_001012975.1:p.Ser704Arg
NM_001164537.2:c.2208C>G (DISC1) NP_001158009.1:p.Ser736Arg
NM_001164538.2:c.2112C>G (DISC1) NP_001158010.1:p.Ser704Arg
NM_001164540.2:c.1746C>G (DISC1) NP_001158012.1:p.Ser582Arg
NM_001164541.2:c.2051C>G (DISC1) NP_001158013.1:p.Ala684Gly
NM_001164547.2:c.*85C>G (DISC1) NP_001158019.1:n.*85C>G
NM_018662.3:c.2112C>G (DISC1) MANE Select NP_061132.2:p.Ser704Arg