Canonical Allele Identifier: CA529844477

Gene: DISC1 TSNAX-DISC1

Linked Data

• dbSNP Id: rs1288225061
• gnomAD v2: 1-232172851-C-A
• gnomAD v3: 1-232037105-C-A
• gnomAD v4: 1-232037105-C-A
• MyVariant Identifiers: chr1:g.232172851C>A (hg19) ; chr1:g.232037105C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.232037105C>A , CM000663.2:g.232037105C>A	GRCh38
NC_000001.10:g.232172851C>A , CM000663.1:g.232172851C>A	GRCh37
NC_000001.9:g.230239474C>A	NCBI36
NG_011681.1:g.415291C>A
NG_011681.2:g.415291C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366637.8:c.*274C>A (DISC1)	ENSP00000355597.6:n.*274C>A
ENST00000439617.8:c.*274C>A (DISC1) MANE Select	ENSP00000403888.4:n.*274C>A
ENST00000366637.7:c.*274C>A (DISC1)	ENSP00000355597.5:n.*274C>A
ENST00000439617.6:c.*274C>A (DISC1)	ENSP00000403888.2:n.*274C>A
ENST00000620189.3:c.*274C>A (DISC1)	ENSP00000482174.1:n.*274C>A
ENST00000622252.4:c.*1380C>A (DISC1)	ENSP00000481791.1:n.*1380C>A
NM_001012957.1:c.*274C>A (DISC1)	NP_001012975.1:n.*274C>A
NM_001164537.1:c.*274C>A (DISC1)	NP_001158009.1:n.*274C>A
NM_001164540.1:c.*274C>A (DISC1)	NP_001158012.1:n.*274C>A
NM_018662.2:c.*274C>A (DISC1)	NP_061132.2:n.*274C>A
NR_028393.1:n.3505C>A (TSNAX-DISC1)
NM_001012957.2:c.*274C>A (DISC1)	NP_001012975.1:n.*274C>A
NM_001164537.2:c.*274C>A (DISC1)	NP_001158009.1:n.*274C>A
NM_001164540.2:c.*274C>A (DISC1)	NP_001158012.1:n.*274C>A
NM_018662.3:c.*274C>A (DISC1) MANE Select	NP_061132.2:n.*274C>A