Canonical Allele Identifier: CA16604823
Gene: CERT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 384775
ClinVar RCV Id: RCV000435874
dbSNP Id: rs1057522045

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.75506043G>T , CM000667.2:g.75506043G>T GRCh38
NC_000005.9:g.74801868G>T , CM000667.1:g.74801868G>T GRCh37
NC_000005.8:g.74837624G>T NCBI36
NG_029492.1:g.10939C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647127.2:n.600C>A
ENST00000647512.2:n.600C>A
ENST00000261415.12:c.170C>A ENSP00000261415.8:p.Ser57Tyr
ENST00000405807.10:c.554C>A ENSP00000383996.4:p.Ser185Tyr
ENST00000642225.1:c.170C>A ENSP00000493604.1:p.Ser57Tyr
ENST00000642556.1:c.170C>A ENSP00000496016.1:p.Ser57Tyr
ENST00000642809.1:c.170C>A ENSP00000494804.1:p.Ser57Tyr
ENST00000643158.1:c.170C>A ENSP00000496462.1:p.Ser57Tyr
ENST00000643773.1:c.-227C>A ENSP00000493565.1:n.-227C>A
ENST00000643780.2:c.170C>A MANE Select ENSP00000495760.1:p.Ser57Tyr
ENST00000644072.2:c.170C>A ENSP00000494110.2:p.Ser57Tyr
ENST00000644377.1:c.170C>A ENSP00000494810.1:p.Ser57Tyr
ENST00000644445.1:c.170C>A ENSP00000496243.1:p.Ser57Tyr
ENST00000644516.1:c.170C>A ENSP00000495430.1:p.Ser57Tyr
ENST00000644912.1:c.170C>A ENSP00000495172.1:p.Ser57Tyr
ENST00000645483.1:c.170C>A ENSP00000493563.1:p.Ser57Tyr
ENST00000645866.1:c.170C>A ENSP00000494424.1:p.Ser57Tyr
ENST00000646302.1:c.170C>A ENSP00000496472.1:p.Ser57Tyr
ENST00000646511.1:c.170C>A ENSP00000495446.1:p.Ser57Tyr
ENST00000646713.1:c.170C>A ENSP00000494968.1:p.Ser57Tyr
ENST00000647127.1:n.163C>A
ENST00000647512.1:n.383C>A
ENST00000261415.11:c.170C>A ENSP00000261415.7:p.Ser57Tyr
ENST00000380494.9:c.554C>A ENSP00000369862.4:p.Ser185Tyr
ENST00000405807.8:c.170C>A ENSP00000383996.3:p.Ser57Tyr
NM_001130105.1:c.554C>A NP_001123577.1:p.Ser185Tyr
NM_005713.2:c.170C>A NP_005704.1:p.Ser57Tyr
NM_031361.2:c.170C>A NP_112729.1:p.Ser57Tyr
XM_006714513.1:c.170C>A XP_006714576.1:p.Ser57Tyr
XM_011543090.1:c.170C>A XP_011541392.1:p.Ser57Tyr
XM_011543091.1:c.170C>A XP_011541393.1:p.Ser57Tyr
XM_006714513.3:c.170C>A XP_006714576.1:p.Ser57Tyr
XM_011543090.3:c.170C>A XP_011541392.1:p.Ser57Tyr
XM_011543091.3:c.170C>A XP_011541393.1:p.Ser57Tyr
XM_017008919.2:c.170C>A XP_016864408.1:p.Ser57Tyr
NM_005713.3:c.170C>A NP_005704.1:p.Ser57Tyr
NM_031361.3:c.170C>A NP_112729.1:p.Ser57Tyr
NM_001379002.1:c.170C>A NP_001365931.1:p.Ser57Tyr
NM_001379003.1:c.170C>A NP_001365932.1:p.Ser57Tyr
NM_001379004.1:c.170C>A NP_001365933.1:p.Ser57Tyr
NM_001379029.1:c.170C>A MANE Select NP_001365958.1:p.Ser57Tyr