Canonical Allele Identifier: CA16441685

Gene: CPNE8

Linked Data

• dbSNP Id: rs11169838
• gnomAD v2: 12-39253108-C-T
• gnomAD v3: 12-38859306-C-T
• gnomAD v4: 12-38859306-C-T
• MyVariant Identifiers: chr12:g.39253108C>T (hg19) ; chr12:g.38859306C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.38859306C>T , CM000674.2:g.38859306C>T	GRCh38
NC_000012.11:g.39253108C>T , CM000674.1:g.39253108C>T	GRCh37
NC_000012.10:g.37539375C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000331366.10:c.187-10644G>A MANE Select	ENSP00000329748.5:n.187-10644G>A
ENST00000331366.9:c.187-10644G>A	ENSP00000329748.5:n.187-10644G>A
ENST00000360449.3:c.151-10644G>A	ENSP00000353633.3:n.151-10644G>A
ENST00000550863.1:c.-297-10644G>A	ENSP00000447761.1:n.-297-10644G>A
NM_153634.2:c.187-10644G>A	NP_705898.1:n.187-10644G>A
XM_011537951.1:c.187-10644G>A	XP_011536253.1:n.187-10644G>A
XM_011537952.1:c.187-10644G>A	XP_011536254.1:n.187-10644G>A
XR_245896.2:n.788-10644G>A
XR_944501.1:n.788-10644G>A
XM_011537951.3:c.187-10644G>A	XP_011536253.1:n.187-10644G>A
XM_011537952.3:c.187-10644G>A	XP_011536254.1:n.187-10644G>A
XM_017018852.1:c.-297-10644G>A	XP_016874341.1:n.-297-10644G>A
XR_245896.4:n.244-10644G>A
XR_944501.3:n.244-10644G>A
NM_153634.3:c.187-10644G>A MANE Select	NP_705898.1:n.187-10644G>A