Canonical Allele Identifier: CA12190370

Gene: CPNE5

Linked Data

• dbSNP Id: rs236373
• gnomAD v2: 6-36792057-C-T
• gnomAD v3: 6-36824281-C-T
• gnomAD v4: 6-36824281-C-T
• MyVariant Identifiers: chr6:g.36792057C>T (hg19) ; chr6:g.36824281C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.36824281C>T , CM000668.2:g.36824281C>T	GRCh38
NC_000006.11:g.36792057C>T , CM000668.1:g.36792057C>T	GRCh37
NC_000006.10:g.36900035C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000633136.2:c.96-1183G>A	ENSP00000487872.2:n.96-1183G>A
ENST00000244751.7:c.96-1183G>A MANE Select	ENSP00000244751.2:n.96-1183G>A
ENST00000244751.6:c.96-1183G>A	ENSP00000244751.2:n.96-1183G>A
ENST00000633136.1:c.48-1183G>A	ENSP00000487872.1:n.48-1183G>A
ENST00000633280.1:c.96-1183G>A	ENSP00000488125.1:n.96-1183G>A
NM_001314017.1:c.96-1183G>A	NP_001300946.1:n.96-1183G>A
NM_020939.1:c.96-1183G>A	NP_065990.1:n.96-1183G>A
XM_005249247.1:c.96-1183G>A	XP_005249304.1:n.96-1183G>A
XM_005249249.2:c.96-1183G>A	XP_005249306.1:n.96-1183G>A
XM_011514768.1:c.96-1183G>A	XP_011513070.1:n.96-1183G>A
XM_011514769.1:c.96-1183G>A	XP_011513071.1:n.96-1183G>A
XM_011514770.1:c.-19-1183G>A	XP_011513072.1:n.-19-1183G>A
XM_011514771.1:c.-19-1183G>A	XP_011513073.1:n.-19-1183G>A
XM_011514772.1:c.96-1183G>A	XP_011513074.1:n.96-1183G>A
XM_011514774.1:c.96-1183G>A	XP_011513076.1:n.96-1183G>A
XR_241909.1:n.163-1183G>A
XR_926291.1:n.163-1183G>A
XM_005249247.2:c.96-1183G>A	XP_005249304.1:n.96-1183G>A
XM_011514771.2:c.-19-1183G>A	XP_011513073.1:n.-19-1183G>A
XR_001743541.1:n.163-1183G>A
XR_002956290.1:n.163-1183G>A
XR_002956291.1:n.163-1183G>A
NM_020939.2:c.96-1183G>A MANE Select	NP_065990.1:n.96-1183G>A
NM_001376889.1:c.96-1183G>A	NP_001363818.1:n.96-1183G>A
NR_164866.1:n.717-1183G>A