Canonical Allele Identifier: CA235781847

Gene: CPNE8

Linked Data

• dbSNP Id: rs979620908
• gnomAD v2: 12-39050590-C-A
• gnomAD v3: 12-38656788-C-A
• gnomAD v4: 12-38656788-C-A
• MyVariant Identifiers: chr12:g.39050590C>A (hg19) ; chr12:g.38656788C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.38656788C>A , CM000674.2:g.38656788C>A	GRCh38
NC_000012.11:g.39050590C>A , CM000674.1:g.39050590C>A	GRCh37
NC_000012.10:g.37336857C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000331366.10:c.1507-2718G>T MANE Select	ENSP00000329748.5:n.1507-2718G>T
ENST00000331366.9:c.1507-2718G>T	ENSP00000329748.5:n.1507-2718G>T
ENST00000360449.3:c.1471-2718G>T	ENSP00000353633.3:n.1471-2718G>T
ENST00000538596.6:c.514-2718G>T	ENSP00000439237.2:n.514-2718G>T
ENST00000546603.5:n.337-2718G>T
ENST00000547417.1:n.268-2718G>T
ENST00000552259.5:n.281-9695G>T
NM_153634.2:c.1507-2718G>T	NP_705898.1:n.1507-2718G>T
XR_944501.1:n.2219-2718G>T
XM_017018852.1:c.1024-2718G>T	XP_016874341.1:n.1024-2718G>T
XR_944501.3:n.1675-2718G>T
NM_153634.3:c.1507-2718G>T MANE Select	NP_705898.1:n.1507-2718G>T