Canonical Allele Identifier: CA944625364
Gene: CLECL1P HGNC NCBI

Linked Data

dbSNP Id: rs1866337355
gnomAD v3: 12-9723349-C-T
gnomAD v4: 12-9723349-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9723349C>T , CM000674.2:g.9723349C>T GRCh38
NC_000012.11:g.9875945C>T , CM000674.1:g.9875945C>T GRCh37
NC_000012.10:g.9767212C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000702603.1:n.150-536G>A
ENST00000327839.4:n.352-536G>A
ENST00000621400.5:n.263-536G>A
ENST00000327839.3:c.317-536G>A ENSP00000331766.3:n.317-536G>A
ENST00000542530.5:c.172-536G>A
ENST00000621400.4:c.317-536G>A ENSP00000483624.1:n.317-536G>A
NM_001253750.1:c.317-536G>A NP_001240679.1:n.317-536G>A
NM_001267701.1:c.317-536G>A NP_001254630.1:n.317-536G>A
NM_172004.3:c.317-536G>A NP_742001.1:n.317-536G>A
XM_011520574.1:c.317-536G>A XP_011518876.1:n.317-536G>A
XM_011520574.2:c.317-536G>A XP_011518876.1:n.317-536G>A
XM_017018885.1:c.149-536G>A XP_016874374.1:n.149-536G>A
NR_172485.1:n.349-536G>A
NR_172486.1:n.349-536G>A