Canonical Allele Identifier: CA2674273831
Gene: CERT1 HGNC NCBI

Linked Data

gnomAD v4: 5-75426550-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.75426550G>A , CM000667.2:g.75426550G>A GRCh38
NC_000005.9:g.74722375G>A , CM000667.1:g.74722375G>A GRCh37
NC_000005.8:g.74758131G>A NCBI36
NG_029492.1:g.90432C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647512.2:n.779-72C>T
ENST00000261415.12:c.349-72C>T ENSP00000261415.8:n.349-72C>T
ENST00000380494.10:c.141-72C>T
ENST00000405807.10:c.733-72C>T ENSP00000383996.4:n.733-72C>T
ENST00000642225.1:c.349-72C>T ENSP00000493604.1:n.349-72C>T
ENST00000642556.1:c.349-72C>T ENSP00000496016.1:n.349-72C>T
ENST00000642809.1:c.349-72C>T ENSP00000494804.1:n.349-72C>T
ENST00000643158.1:c.349-72C>T ENSP00000496462.1:n.349-72C>T
ENST00000643773.1:c.-48-72C>T ENSP00000493565.1:n.-48-72C>T
ENST00000643780.2:c.349-72C>T MANE Select ENSP00000495760.1:n.349-72C>T
ENST00000644072.2:c.349-72C>T ENSP00000494110.2:n.349-72C>T
ENST00000644377.1:c.349-72C>T ENSP00000494810.1:n.349-72C>T
ENST00000644445.1:c.349-72C>T ENSP00000496243.1:n.349-72C>T
ENST00000644516.1:c.349-72C>T ENSP00000495430.1:n.349-72C>T
ENST00000644912.1:c.349-72C>T ENSP00000495172.1:n.349-72C>T
ENST00000645483.1:c.349-72C>T ENSP00000493563.1:n.349-72C>T
ENST00000645866.1:c.349-72C>T ENSP00000494424.1:n.349-72C>T
ENST00000646302.1:c.349-72C>T ENSP00000496472.1:n.349-72C>T
ENST00000646511.1:c.349-72C>T ENSP00000495446.1:n.349-72C>T
ENST00000646713.1:c.349-72C>T ENSP00000494968.1:n.349-72C>T
ENST00000647512.1:n.562-72C>T
ENST00000261415.11:c.349-72C>T ENSP00000261415.7:n.349-72C>T
ENST00000380494.9:c.733-72C>T ENSP00000369862.4:n.733-72C>T
ENST00000405807.8:c.349-72C>T ENSP00000383996.3:n.349-72C>T
NM_001130105.1:c.733-72C>T NP_001123577.1:n.733-72C>T
NM_005713.2:c.349-72C>T NP_005704.1:n.349-72C>T
NM_031361.2:c.349-72C>T NP_112729.1:n.349-72C>T
XM_006714513.1:c.349-72C>T XP_006714576.1:n.349-72C>T
XM_011543090.1:c.349-72C>T XP_011541392.1:n.349-72C>T
XM_011543091.1:c.349-72C>T XP_011541393.1:n.349-72C>T
XM_006714513.3:c.349-72C>T XP_006714576.1:n.349-72C>T
XM_011543090.3:c.349-72C>T XP_011541392.1:n.349-72C>T
XM_011543091.3:c.349-72C>T XP_011541393.1:n.349-72C>T
XM_017008919.2:c.349-72C>T XP_016864408.1:n.349-72C>T
NM_005713.3:c.349-72C>T NP_005704.1:n.349-72C>T
NM_031361.3:c.349-72C>T NP_112729.1:n.349-72C>T
NM_001379002.1:c.349-72C>T NP_001365931.1:n.349-72C>T
NM_001379003.1:c.349-72C>T NP_001365932.1:n.349-72C>T
NM_001379004.1:c.349-72C>T NP_001365933.1:n.349-72C>T
NM_001379029.1:c.349-72C>T MANE Select NP_001365958.1:n.349-72C>T