Canonical Allele Identifier: CA380216946

Gene: CREB3L1

Linked Data

• ClinVar Variation Id: 432652
• ClinVar RCV Id: RCV000498256 ; RCV000763743
• dbSNP Id: rs747612049
• gnomAD v2: 11-46329523-C-G
• gnomAD v4: 11-46307972-C-G
• MyVariant Identifiers: chr11:g.46329523C>G (hg19) ; chr11:g.46307972C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46307972C>G , CM000673.2:g.46307972C>G	GRCh38
NC_000011.9:g.46329523C>G , CM000673.1:g.46329523C>G	GRCh37
NC_000011.8:g.46286099C>G	NCBI36
NG_033264.1:g.35335C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621158.5:c.488C>G MANE Select	ENSP00000481956.1:p.Pro163Arg
ENST00000621158.4:c.488C>G	ENSP00000481956.1:p.Pro163Arg
NM_052854.3:c.488C>G	NP_443086.1:p.Pro163Arg
XM_006718380.2:c.488C>G	XP_006718443.1:p.Pro163Arg
XM_006718380.3:c.488C>G	XP_006718443.1:p.Pro163Arg
NM_052854.4:c.488C>G MANE Select	NP_443086.1:p.Pro163Arg