Canonical Allele Identifier: CA360137249

Gene: CERT1

Linked Data

• gnomAD v3: 5-75426475-C-A
• gnomAD v4: 5-75426475-C-A
• MyVariant Identifiers: chr5:g.74722300C>A (hg19) ; chr5:g.75426475C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75426475C>A , CM000667.2:g.75426475C>A	GRCh38
NC_000005.9:g.74722300C>A , CM000667.1:g.74722300C>A	GRCh37
NC_000005.8:g.74758056C>A	NCBI36
NG_029492.1:g.90507G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647512.2:n.782G>T
ENST00000261415.12:c.352G>T	ENSP00000261415.8:p.Glu118Ter
ENST00000380494.10:c.144G>T
ENST00000405807.10:c.736G>T	ENSP00000383996.4:p.Glu246Ter
ENST00000642225.1:c.352G>T	ENSP00000493604.1:p.Glu118Ter
ENST00000642556.1:c.352G>T	ENSP00000496016.1:p.Glu118Ter
ENST00000642809.1:c.352G>T	ENSP00000494804.1:p.Glu118Ter
ENST00000643158.1:c.352G>T	ENSP00000496462.1:p.Glu118Ter
ENST00000643773.1:c.-45G>T	ENSP00000493565.1:n.-45G>T
ENST00000643780.2:c.352G>T MANE Select	ENSP00000495760.1:p.Glu118Ter
ENST00000644072.2:c.352G>T	ENSP00000494110.2:p.Glu118Ter
ENST00000644377.1:c.352G>T	ENSP00000494810.1:p.Glu118Ter
ENST00000644445.1:c.352G>T	ENSP00000496243.1:p.Glu118Ter
ENST00000644516.1:c.352G>T	ENSP00000495430.1:p.Glu118Ter
ENST00000644912.1:c.352G>T	ENSP00000495172.1:p.Glu118Ter
ENST00000645483.1:c.352G>T	ENSP00000493563.1:p.Glu118Ter
ENST00000645866.1:c.352G>T	ENSP00000494424.1:p.Glu118Ter
ENST00000646302.1:c.352G>T	ENSP00000496472.1:p.Glu118Ter
ENST00000646511.1:c.352G>T	ENSP00000495446.1:p.Glu118Ter
ENST00000646713.1:c.352G>T	ENSP00000494968.1:p.Glu118Ter
ENST00000647512.1:n.565G>T
ENST00000261415.11:c.352G>T	ENSP00000261415.7:p.Glu118Ter
ENST00000380494.9:c.736G>T	ENSP00000369862.4:p.Glu246Ter
ENST00000405807.8:c.352G>T	ENSP00000383996.3:p.Glu118Ter
NM_001130105.1:c.736G>T	NP_001123577.1:p.Glu246Ter
NM_005713.2:c.352G>T	NP_005704.1:p.Glu118Ter
NM_031361.2:c.352G>T	NP_112729.1:p.Glu118Ter
XM_006714513.1:c.352G>T	XP_006714576.1:p.Glu118Ter
XM_011543090.1:c.352G>T	XP_011541392.1:p.Glu118Ter
XM_011543091.1:c.352G>T	XP_011541393.1:p.Glu118Ter
XM_006714513.3:c.352G>T	XP_006714576.1:p.Glu118Ter
XM_011543090.3:c.352G>T	XP_011541392.1:p.Glu118Ter
XM_011543091.3:c.352G>T	XP_011541393.1:p.Glu118Ter
XM_017008919.2:c.352G>T	XP_016864408.1:p.Glu118Ter
NM_005713.3:c.352G>T	NP_005704.1:p.Glu118Ter
NM_031361.3:c.352G>T	NP_112729.1:p.Glu118Ter
NM_001379002.1:c.352G>T	NP_001365931.1:p.Glu118Ter
NM_001379003.1:c.352G>T	NP_001365932.1:p.Glu118Ter
NM_001379004.1:c.352G>T	NP_001365933.1:p.Glu118Ter
NM_001379029.1:c.352G>T MANE Select	NP_001365958.1:p.Glu118Ter