Canonical Allele Identifier: CA3781048

Gene: CPNE5

Linked Data

• dbSNP Id: rs3752482
• ExAC: 6:36733070 A / G
• gnomAD v2: 6-36733070-A-G
• gnomAD v3: 6-36765293-A-G
• gnomAD v4: 6-36765293-A-G
• MyVariant Identifiers: chr6:g.36733070A>G (hg19) ; chr6:g.36765293A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.36765293A>G , CM000668.2:g.36765293A>G	GRCh38
NC_000006.11:g.36733070A>G , CM000668.1:g.36733070A>G	GRCh37
NC_000006.10:g.36841048A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000633136.2:c.830+42T>C	ENSP00000487872.2:n.830+42T>C
ENST00000244751.7:c.779+42T>C MANE Select	ENSP00000244751.2:n.779+42T>C
ENST00000244751.6:c.779+42T>C	ENSP00000244751.2:n.779+42T>C
ENST00000633136.1:c.782+42T>C	ENSP00000487872.1:n.782+42T>C
NM_020939.1:c.779+42T>C	NP_065990.1:n.779+42T>C
XM_005249247.1:c.830+42T>C	XP_005249304.1:n.830+42T>C
XM_005249249.2:c.830+42T>C	XP_005249306.1:n.830+42T>C
XM_011514768.1:c.830+42T>C	XP_011513070.1:n.830+42T>C
XM_011514769.1:c.779+42T>C	XP_011513071.1:n.779+42T>C
XM_011514770.1:c.716+42T>C	XP_011513072.1:n.716+42T>C
XM_011514771.1:c.716+42T>C	XP_011513073.1:n.716+42T>C
XM_011514772.1:c.830+42T>C	XP_011513074.1:n.830+42T>C
XM_011514773.1:c.239+42T>C	XP_011513075.1:n.239+42T>C
XM_011514774.1:c.830+42T>C	XP_011513076.1:n.830+42T>C
XM_011514777.1:c.-210+42T>C	XP_011513079.1:n.-210+42T>C
XR_241909.1:n.897+42T>C
XR_926291.1:n.897+42T>C
XM_005249247.2:c.830+42T>C	XP_005249304.1:n.830+42T>C
XM_011514771.2:c.716+42T>C	XP_011513073.1:n.716+42T>C
XM_011514773.2:c.239+42T>C	XP_011513075.1:n.239+42T>C
XM_017011139.2:c.386+42T>C	XP_016866628.1:n.386+42T>C
XM_024446500.1:c.-210+42T>C	XP_024302268.1:n.-210+42T>C
XR_001743541.1:n.897+42T>C
XR_002956290.1:n.897+42T>C
XR_002956291.1:n.897+42T>C
NM_020939.2:c.779+42T>C MANE Select	NP_065990.1:n.779+42T>C
NM_001376888.1:c.-210+42T>C	NP_001363817.1:n.-210+42T>C
NM_001376889.1:c.830+42T>C	NP_001363818.1:n.830+42T>C
NM_001376890.1:c.-98+42T>C	NP_001363819.1:n.-98+42T>C