Canonical Allele Identifier: CA212800572

Gene: CNNM1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99379424G>A , CM000672.2:g.99379424G>A	GRCh38
NC_000010.10:g.101139181G>A , CM000672.1:g.101139181G>A	GRCh37
NC_000010.9:g.101129171G>A	NCBI36
NG_051577.1:g.55326G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020348.3:c.2340+2206G>A MANE Select	NP_065081.2:n.2340+2206G>A
ENST00000356713.5:c.2340+2206G>A MANE Select	ENSP00000349147.4:n.2340+2206G>A
NM_001345887.1:c.2403+2206G>A	NP_001332816.1:n.2403+2206G>A
NM_001345887.2:c.2403+2206G>A	NP_001332816.1:n.2403+2206G>A
NM_001345888.1:c.2340+2206G>A	NP_001332817.1:n.2340+2206G>A
NM_001345888.2:c.2340+2206G>A	NP_001332817.1:n.2340+2206G>A
NM_001345889.1:c.2403+2206G>A	NP_001332818.1:n.2403+2206G>A
NM_001345889.2:c.2403+2206G>A	NP_001332818.1:n.2403+2206G>A
NM_020348.2:c.2340+2206G>A	NP_065081.2:n.2340+2206G>A
NR_144311.1:n.2629+2206G>A
NR_144311.2:n.2372+2206G>A
ENST00000356713.4:c.2340+2206G>A	ENSP00000349147.4:n.2340+2206G>A
ENST00000696687.1:c.2403+2206G>A	ENSP00000512809.1:n.2403+2206G>A
XM_005269692.3:c.2340+2206G>A	XP_005269749.2:n.2340+2206G>A
XM_011539629.1:c.2403+2206G>A	XP_011537931.1:n.2403+2206G>A
XM_011539630.1:c.2403+2206G>A	XP_011537932.1:n.2403+2206G>A
XM_011539631.1:c.2403+2206G>A	XP_011537933.1:n.2403+2206G>A
XM_011539631.3:c.2403+2206G>A	XP_011537933.1:n.2403+2206G>A
XR_002956974.1:n.2686+2206G>A
XR_945667.1:n.2688+2206G>A
XR_945667.2:n.2686+2206G>A