Canonical Allele Identifier: CA529844475

Gene: DISC1 TSNAX-DISC1

Linked Data

• dbSNP Id: rs1400514538
• gnomAD v2: 1-232172747-G-T
• gnomAD v4: 1-232037001-G-T
• MyVariant Identifiers: chr1:g.232172747G>T (hg19) ; chr1:g.232037001G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.232037001G>T , CM000663.2:g.232037001G>T	GRCh38
NC_000001.10:g.232172747G>T , CM000663.1:g.232172747G>T	GRCh37
NC_000001.9:g.230239370G>T	NCBI36
NG_011681.1:g.415187G>T
NG_011681.2:g.415187G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366637.8:c.*170G>T (DISC1)	ENSP00000355597.6:n.*170G>T
ENST00000439617.8:c.*170G>T (DISC1) MANE Select	ENSP00000403888.4:n.*170G>T
ENST00000366637.7:c.*170G>T (DISC1)	ENSP00000355597.5:n.*170G>T
ENST00000439617.6:c.*170G>T (DISC1)	ENSP00000403888.2:n.*170G>T
ENST00000620189.3:c.*170G>T (DISC1)	ENSP00000482174.1:n.*170G>T
ENST00000622252.4:c.*1276G>T (DISC1)	ENSP00000481791.1:n.*1276G>T
NM_001012957.1:c.*170G>T (DISC1)	NP_001012975.1:n.*170G>T
NM_001164537.1:c.*170G>T (DISC1)	NP_001158009.1:n.*170G>T
NM_001164540.1:c.*170G>T (DISC1)	NP_001158012.1:n.*170G>T
NM_018662.2:c.*170G>T (DISC1)	NP_061132.2:n.*170G>T
NR_028393.1:n.3401G>T (TSNAX-DISC1)
NM_001012957.2:c.*170G>T (DISC1)	NP_001012975.1:n.*170G>T
NM_001164537.2:c.*170G>T (DISC1)	NP_001158009.1:n.*170G>T
NM_001164540.2:c.*170G>T (DISC1)	NP_001158012.1:n.*170G>T
NM_018662.3:c.*170G>T (DISC1) MANE Select	NP_061132.2:n.*170G>T