Canonical Allele Identifier: CA345344526

Gene: DISC1 TSNAX-DISC1

Linked Data - Variant Effect Evidence

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366637.8:c.2112C>A (DISC1)	ENSP00000355597.6:p.Ser704Arg
ENST00000439617.8:c.2112C>A (DISC1) MANE Select	ENSP00000403888.4:p.Ser704Arg
ENST00000366637.7:c.2112C>A (DISC1)	ENSP00000355597.5:p.Ser704Arg
ENST00000422590.6:c.*1973C>A (DISC1)	ENSP00000415147.2:n.*1973C>A
ENST00000427560.1:n.377C>A (DISC1)
ENST00000439617.6:c.2112C>A (DISC1)	ENSP00000403888.2:p.Ser704Arg
ENST00000535983.5:c.2051C>A (DISC1)	ENSP00000443996.1:p.Ala684Asp
ENST00000620189.3:c.1746C>A (DISC1)	ENSP00000482174.1:p.Ser582Arg
ENST00000622252.4:c.*653C>A (DISC1)	ENSP00000481791.1:n.*653C>A
NM_001012957.1:c.2112C>A (DISC1)	NP_001012975.1:p.Ser704Arg
NM_001164537.1:c.2208C>A (DISC1)	NP_001158009.1:p.Ser736Arg
NM_001164538.1:c.2112C>A (DISC1)	NP_001158010.1:p.Ser704Arg
NM_001164540.1:c.1746C>A (DISC1)	NP_001158012.1:p.Ser582Arg
NM_001164541.1:c.2051C>A (DISC1)	NP_001158013.1:p.Ala684Asp
NM_001164547.1:c.*85C>A (DISC1)	NP_001158019.1:n.*85C>A
NM_018662.2:c.2112C>A (DISC1)	NP_061132.2:p.Ser704Arg
NR_028393.1:n.2778C>A (TSNAX-DISC1)
NM_001012957.2:c.2112C>A (DISC1)	NP_001012975.1:p.Ser704Arg
NM_001164537.2:c.2208C>A (DISC1)	NP_001158009.1:p.Ser736Arg
NM_001164538.2:c.2112C>A (DISC1)	NP_001158010.1:p.Ser704Arg
NM_001164540.2:c.1746C>A (DISC1)	NP_001158012.1:p.Ser582Arg
NM_001164541.2:c.2051C>A (DISC1)	NP_001158013.1:p.Ala684Asp
NM_001164547.2:c.*85C>A (DISC1)	NP_001158019.1:n.*85C>A
NM_018662.3:c.2112C>A (DISC1) MANE Select	NP_061132.2:p.Ser704Arg