Canonical Allele Identifier: CA232729439

Gene: CLECL1P

Linked Data

• dbSNP Id: rs201355678
• gnomAD v2: 12-9876052-A-G
• gnomAD v3: 12-9723456-A-G
• gnomAD v4: 12-9723456-A-G
• COSMIC: COSN23780467
• MyVariant Identifiers: chr12:g.9876052A>G (hg19) ; chr12:g.9876052_9876056delinsGCACG (hg19) ; chr12:g.9723456A>G (hg38) ; chr12:g.9723456_9723460delinsGCACG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.9723456A>G , CM000674.2:g.9723456A>G	GRCh38
NC_000012.11:g.9876052A>G , CM000674.1:g.9876052A>G	GRCh37
NC_000012.10:g.9767319A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000702603.1:n.150-643T>C
ENST00000327839.4:n.352-643T>C
ENST00000621400.5:n.263-643T>C
ENST00000327839.3:c.317-643T>C	ENSP00000331766.3:n.317-643T>C
ENST00000542530.5:c.172-643T>C
ENST00000621400.4:c.317-643T>C	ENSP00000483624.1:n.317-643T>C
NM_001253750.1:c.317-643T>C	NP_001240679.1:n.317-643T>C
NM_001267701.1:c.317-643T>C	NP_001254630.1:n.317-643T>C
NM_172004.3:c.317-643T>C	NP_742001.1:n.317-643T>C
XM_011520574.1:c.317-643T>C	XP_011518876.1:n.317-643T>C
XM_011520574.2:c.317-643T>C	XP_011518876.1:n.317-643T>C
XM_017018885.1:c.149-643T>C	XP_016874374.1:n.149-643T>C
NR_172485.1:n.349-643T>C
NR_172486.1:n.349-643T>C