Canonical Allele Identifier: CA232729414

Gene: CLECL1P

Linked Data

• dbSNP Id: rs986847002
• gnomAD v2: 12-9876047-C-A
• gnomAD v3: 12-9723451-C-A
• gnomAD v4: 12-9723451-C-A
• MyVariant Identifiers: chr12:g.9876047C>A (hg19) ; chr12:g.9723451C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.9723451C>A , CM000674.2:g.9723451C>A	GRCh38
NC_000012.11:g.9876047C>A , CM000674.1:g.9876047C>A	GRCh37
NC_000012.10:g.9767314C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000702603.1:n.150-638G>T
ENST00000327839.4:n.352-638G>T
ENST00000621400.5:n.263-638G>T
ENST00000327839.3:c.317-638G>T	ENSP00000331766.3:n.317-638G>T
ENST00000542530.5:c.172-638G>T
ENST00000621400.4:c.317-638G>T	ENSP00000483624.1:n.317-638G>T
NM_001253750.1:c.317-638G>T	NP_001240679.1:n.317-638G>T
NM_001267701.1:c.317-638G>T	NP_001254630.1:n.317-638G>T
NM_172004.3:c.317-638G>T	NP_742001.1:n.317-638G>T
XM_011520574.1:c.317-638G>T	XP_011518876.1:n.317-638G>T
XM_011520574.2:c.317-638G>T	XP_011518876.1:n.317-638G>T
XM_017018885.1:c.149-638G>T	XP_016874374.1:n.149-638G>T
NR_172485.1:n.349-638G>T
NR_172486.1:n.349-638G>T