Canonical Allele Identifier: CA3309272

Gene: CERT1

Linked Data

• dbSNP Id: rs370009148
• ExAC: 5:74722183 A / G
• gnomAD v2: 5-74722183-A-G
• gnomAD v3: 5-75426358-A-G
• gnomAD v4: 5-75426358-A-G
• MyVariant Identifiers: chr5:g.74722183A>G (hg19) ; chr5:g.75426358A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75426358A>G , CM000667.2:g.75426358A>G	GRCh38
NC_000005.9:g.74722183A>G , CM000667.1:g.74722183A>G	GRCh37
NC_000005.8:g.74757939A>G	NCBI36
NG_029492.1:g.90624T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647512.2:n.886+13T>C
ENST00000261415.12:c.456+13T>C	ENSP00000261415.8:n.456+13T>C
ENST00000380494.10:c.248+13T>C
ENST00000405807.10:c.840+13T>C	ENSP00000383996.4:n.840+13T>C
ENST00000642225.1:c.456+13T>C	ENSP00000493604.1:n.456+13T>C
ENST00000642556.1:c.456+13T>C	ENSP00000496016.1:n.456+13T>C
ENST00000642809.1:c.456+13T>C	ENSP00000494804.1:n.456+13T>C
ENST00000643158.1:c.456+13T>C	ENSP00000496462.1:n.456+13T>C
ENST00000643380.1:c.68+13T>C
ENST00000643773.1:c.60+13T>C	ENSP00000493565.1:n.60+13T>C
ENST00000643780.2:c.456+13T>C MANE Select	ENSP00000495760.1:n.456+13T>C
ENST00000644072.2:c.456+13T>C	ENSP00000494110.2:n.456+13T>C
ENST00000644377.1:c.456+13T>C	ENSP00000494810.1:n.456+13T>C
ENST00000644445.1:c.456+13T>C	ENSP00000496243.1:n.456+13T>C
ENST00000644516.1:c.456+13T>C	ENSP00000495430.1:n.456+13T>C
ENST00000644912.1:c.456+13T>C	ENSP00000495172.1:n.456+13T>C
ENST00000645483.1:c.456+13T>C	ENSP00000493563.1:n.456+13T>C
ENST00000645866.1:c.456+13T>C	ENSP00000494424.1:n.456+13T>C
ENST00000646302.1:c.456+13T>C	ENSP00000496472.1:n.456+13T>C
ENST00000646511.1:c.456+13T>C	ENSP00000495446.1:n.456+13T>C
ENST00000646713.1:c.456+13T>C	ENSP00000494968.1:n.456+13T>C
ENST00000647512.1:n.669+13T>C
ENST00000261415.11:c.456+13T>C	ENSP00000261415.7:n.456+13T>C
ENST00000380494.9:c.840+13T>C	ENSP00000369862.4:n.840+13T>C
ENST00000405807.8:c.456+13T>C	ENSP00000383996.3:n.456+13T>C
NM_001130105.1:c.840+13T>C	NP_001123577.1:n.840+13T>C
NM_005713.2:c.456+13T>C	NP_005704.1:n.456+13T>C
NM_031361.2:c.456+13T>C	NP_112729.1:n.456+13T>C
XM_006714513.1:c.456+13T>C	XP_006714576.1:n.456+13T>C
XM_011543090.1:c.456+13T>C	XP_011541392.1:n.456+13T>C
XM_011543091.1:c.456+13T>C	XP_011541393.1:n.456+13T>C
XM_006714513.3:c.456+13T>C	XP_006714576.1:n.456+13T>C
XM_011543090.3:c.456+13T>C	XP_011541392.1:n.456+13T>C
XM_011543091.3:c.456+13T>C	XP_011541393.1:n.456+13T>C
XM_017008919.2:c.456+13T>C	XP_016864408.1:n.456+13T>C
NM_005713.3:c.456+13T>C	NP_005704.1:n.456+13T>C
NM_031361.3:c.456+13T>C	NP_112729.1:n.456+13T>C
NM_001379002.1:c.456+13T>C	NP_001365931.1:n.456+13T>C
NM_001379003.1:c.456+13T>C	NP_001365932.1:n.456+13T>C
NM_001379004.1:c.456+13T>C	NP_001365933.1:n.456+13T>C
NM_001379029.1:c.456+13T>C MANE Select	NP_001365958.1:n.456+13T>C