Canonical Allele Identifier: CA944625449

Gene: CLECL1P

Linked Data

• dbSNP Id: rs1866340748
• gnomAD v3: 12-9723539-A-G
• gnomAD v4: 12-9723539-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.9723539A>G , CM000674.2:g.9723539A>G	GRCh38
NC_000012.11:g.9876135A>G , CM000674.1:g.9876135A>G	GRCh37
NC_000012.10:g.9767402A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000702603.1:n.150-726T>C
ENST00000327839.4:n.352-726T>C
ENST00000621400.5:n.263-726T>C
ENST00000327839.3:c.317-726T>C	ENSP00000331766.3:n.317-726T>C
ENST00000542530.5:c.172-726T>C
ENST00000621400.4:c.317-726T>C	ENSP00000483624.1:n.317-726T>C
NM_001253750.1:c.317-726T>C	NP_001240679.1:n.317-726T>C
NM_001267701.1:c.317-726T>C	NP_001254630.1:n.317-726T>C
NM_172004.3:c.317-726T>C	NP_742001.1:n.317-726T>C
XM_011520574.1:c.317-726T>C	XP_011518876.1:n.317-726T>C
XM_011520574.2:c.317-726T>C	XP_011518876.1:n.317-726T>C
XM_017018885.1:c.149-726T>C	XP_016874374.1:n.149-726T>C
NR_172485.1:n.349-726T>C
NR_172486.1:n.349-726T>C