Canonical Allele Identifier: CA43628819

Gene: NCOA1

Linked Data

• dbSNP Id: rs966739861
• gnomAD v2: 2-24991477-T-C
• gnomAD v3: 2-24768608-T-C
• gnomAD v4: 2-24768608-T-C
• MyVariant Identifiers: chr2:g.24991477T>C (hg19) ; chr2:g.24768608T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.24768608T>C , CM000664.2:g.24768608T>C	GRCh38
NC_000002.11:g.24991477T>C , CM000664.1:g.24991477T>C	GRCh37
NC_000002.10:g.24844981T>C	NCBI36
NG_029014.1:g.189132T>C
NG_029014.2:g.281559T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000348332.8:c.*217T>C MANE Select	ENSP00000320940.5:n.*217T>C
ENST00000288599.9:c.*400T>C	ENSP00000288599.5:n.*400T>C
ENST00000348332.7:c.*217T>C	ENSP00000320940.5:n.*217T>C
ENST00000395856.3:c.*217T>C	ENSP00000379197.3:n.*217T>C
ENST00000405141.5:c.*400T>C	ENSP00000385097.1:n.*400T>C
ENST00000406961.5:c.*217T>C	ENSP00000385216.1:n.*217T>C
NM_003743.4:c.*217T>C	NP_003734.3:n.*217T>C
NM_147223.2:c.*400T>C	NP_671756.1:n.*400T>C
NM_147233.2:c.*217T>C	NP_671766.1:n.*217T>C
XM_005264625.1:c.*217T>C	XP_005264682.1:n.*217T>C
XM_005264626.1:c.*217T>C	XP_005264683.1:n.*217T>C
XM_005264627.1:c.*400T>C	XP_005264684.1:n.*400T>C
XM_005264628.1:c.*397T>C	XP_005264685.1:n.*397T>C
XM_011533141.1:c.*217T>C	XP_011531443.1:n.*217T>C
NM_001362950.1:c.*400T>C	NP_001349879.1:n.*400T>C
NM_001362952.1:c.*400T>C	NP_001349881.1:n.*400T>C
NM_001362954.1:c.*397T>C	NP_001349883.1:n.*397T>C
NM_001362955.1:c.*400T>C	NP_001349884.1:n.*400T>C
NM_003743.5:c.*217T>C MANE Select	NP_003734.3:n.*217T>C
NM_147223.3:c.*400T>C	NP_671756.1:n.*400T>C