Canonical Allele Identifier: CA182371524

Gene: CPQ

Linked Data

• dbSNP Id: rs935853128
• gnomAD v2: 8-98154521-A-G
• gnomAD v3: 8-97142293-A-G
• gnomAD v4: 8-97142293-A-G
• MyVariant Identifiers: chr8:g.98154521A>G (hg19) ; chr8:g.97142293A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.97142293A>G , CM000670.2:g.97142293A>G	GRCh38
NC_000008.10:g.98154521A>G , CM000670.1:g.98154521A>G	GRCh37
NC_000008.9:g.98223697A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220763.10:c.1256-727A>G MANE Select	ENSP00000220763.5:n.1256-727A>G
ENST00000220763.9:c.1256-727A>G	ENSP00000220763.5:n.1256-727A>G
ENST00000522617.3:c.229-727A>G
NM_016134.3:c.1256-727A>G	NP_057218.1:n.1256-727A>G
NR_125390.1:n.472-188683T>C
XM_005250755.1:c.1256-727A>G	XP_005250812.1:n.1256-727A>G
XM_011516793.1:c.1256-727A>G	XP_011515095.1:n.1256-727A>G
XM_011516794.1:c.1256-727A>G	XP_011515096.1:n.1256-727A>G
XR_428374.1:n.1533-727A>G
XR_928286.1:n.1583-727A>G
NM_016134.4:c.1256-727A>G MANE Select	NP_057218.1:n.1256-727A>G