Canonical Allele Identifier: CA531349370

Gene: NCOA1

Linked Data

• dbSNP Id: rs1390145115
• gnomAD v2: 2-24991371-C-T
• gnomAD v3: 2-24768502-C-T
• gnomAD v4: 2-24768502-C-T
• MyVariant Identifiers: chr2:g.24991371C>T (hg19) ; chr2:g.24768502C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.24768502C>T , CM000664.2:g.24768502C>T	GRCh38
NC_000002.11:g.24991371C>T , CM000664.1:g.24991371C>T	GRCh37
NC_000002.10:g.24844875C>T	NCBI36
NG_029014.1:g.189026C>T
NG_029014.2:g.281453C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000348332.8:c.*111C>T MANE Select	ENSP00000320940.5:n.*111C>T
ENST00000288599.9:c.*294C>T	ENSP00000288599.5:n.*294C>T
ENST00000348332.7:c.*111C>T	ENSP00000320940.5:n.*111C>T
ENST00000395856.3:c.*111C>T	ENSP00000379197.3:n.*111C>T
ENST00000405141.5:c.*294C>T	ENSP00000385097.1:n.*294C>T
ENST00000406961.5:c.*111C>T	ENSP00000385216.1:n.*111C>T
ENST00000407230.5:c.*291C>T	ENSP00000385195.1:n.*291C>T
NM_003743.4:c.*111C>T	NP_003734.3:n.*111C>T
NM_147223.2:c.*294C>T	NP_671756.1:n.*294C>T
NM_147233.2:c.*111C>T	NP_671766.1:n.*111C>T
XM_005264625.1:c.*111C>T	XP_005264682.1:n.*111C>T
XM_005264626.1:c.*111C>T	XP_005264683.1:n.*111C>T
XM_005264627.1:c.*294C>T	XP_005264684.1:n.*294C>T
XM_005264628.1:c.*291C>T	XP_005264685.1:n.*291C>T
XM_011533141.1:c.*111C>T	XP_011531443.1:n.*111C>T
NM_001362950.1:c.*294C>T	NP_001349879.1:n.*294C>T
NM_001362952.1:c.*294C>T	NP_001349881.1:n.*294C>T
NM_001362954.1:c.*291C>T	NP_001349883.1:n.*291C>T
NM_001362955.1:c.*294C>T	NP_001349884.1:n.*294C>T
NM_003743.5:c.*111C>T MANE Select	NP_003734.3:n.*111C>T
NM_147223.3:c.*294C>T	NP_671756.1:n.*294C>T