Canonical Allele Identifier: CA693845750
Gene: CLECL1P HGNC NCBI

Linked Data

dbSNP Id: rs1342498140
gnomAD v3: 12-9723343-A-G
gnomAD v4: 12-9723343-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9723343A>G , CM000674.2:g.9723343A>G GRCh38
NC_000012.11:g.9875939A>G , CM000674.1:g.9875939A>G GRCh37
NC_000012.10:g.9767206A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000702603.1:n.150-530T>C
ENST00000327839.4:n.352-530T>C
ENST00000621400.5:n.263-530T>C
ENST00000327839.3:c.317-530T>C ENSP00000331766.3:n.317-530T>C
ENST00000542530.5:c.172-530T>C
ENST00000621400.4:c.317-530T>C ENSP00000483624.1:n.317-530T>C
NM_001253750.1:c.317-530T>C NP_001240679.1:n.317-530T>C
NM_001267701.1:c.317-530T>C NP_001254630.1:n.317-530T>C
NM_172004.3:c.317-530T>C NP_742001.1:n.317-530T>C
XM_011520574.1:c.317-530T>C XP_011518876.1:n.317-530T>C
XM_011520574.2:c.317-530T>C XP_011518876.1:n.317-530T>C
XM_017018885.1:c.149-530T>C XP_016874374.1:n.149-530T>C
NR_172485.1:n.349-530T>C
NR_172486.1:n.349-530T>C