Canonical Allele Identifier: CA13586239

Gene: CPNE8

Linked Data

• dbSNP Id: rs10875953
• gnomAD v2: 12-39050536-G-C
• gnomAD v3: 12-38656734-G-C
• gnomAD v4: 12-38656734-G-C
• MyVariant Identifiers: chr12:g.39050536G>C (hg19) ; chr12:g.38656734G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.38656734G>C , CM000674.2:g.38656734G>C	GRCh38
NC_000012.11:g.39050536G>C , CM000674.1:g.39050536G>C	GRCh37
NC_000012.10:g.37336803G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000331366.10:c.1507-2664C>G MANE Select	ENSP00000329748.5:n.1507-2664C>G
ENST00000331366.9:c.1507-2664C>G	ENSP00000329748.5:n.1507-2664C>G
ENST00000360449.3:c.1471-2664C>G	ENSP00000353633.3:n.1471-2664C>G
ENST00000538596.6:c.514-2664C>G	ENSP00000439237.2:n.514-2664C>G
ENST00000546603.5:n.337-2664C>G
ENST00000547417.1:n.268-2664C>G
ENST00000552259.5:n.281-9641C>G
NM_153634.2:c.1507-2664C>G	NP_705898.1:n.1507-2664C>G
XR_944501.1:n.2219-2664C>G
XM_017018852.1:c.1024-2664C>G	XP_016874341.1:n.1024-2664C>G
XR_944501.3:n.1675-2664C>G
NM_153634.3:c.1507-2664C>G MANE Select	NP_705898.1:n.1507-2664C>G