Canonical Allele Identifier: CA2614287168
Community Standard Title: NM_005186.4(CAPN1):c.844-61A>G
Gene: CAPN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65187894A>G , CM000673.2:g.65187894A>G GRCh38
NC_000011.9:g.64955365A>G , CM000673.1:g.64955365A>G GRCh37
NC_000011.8:g.64711941A>G NCBI36
NG_052817.1:g.11680A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005186.4:c.844-61A>G MANE Select NP_005177.2:n.844-61A>G
ENST00000279247.11:c.844-61A>G MANE Select ENSP00000279247.7:n.844-61A>G
NM_001198868.1:c.844-61A>G NP_001185797.1:n.844-61A>G
NM_001198868.2:c.844-61A>G NP_001185797.1:n.844-61A>G
NM_001198869.1:c.844-61A>G NP_001185798.1:n.844-61A>G
NM_001198869.2:c.844-61A>G NP_001185798.1:n.844-61A>G
NM_005186.3:c.844-61A>G NP_005177.2:n.844-61A>G
NR_040008.1:n.956-61A>G
NR_040008.2:n.861-61A>G
ENST00000279247.10:c.844-61A>G ENSP00000279247.6:n.844-61A>G
ENST00000524773.5:c.844-61A>G ENSP00000434176.1:n.844-61A>G
ENST00000526468.1:c.529-61A>G ENSP00000433366.1:n.529-61A>G
ENST00000526954.5:c.*69-61A>G ENSP00000436002.1:n.*69-61A>G
ENST00000527323.5:c.844-61A>G ENSP00000431984.1:n.844-61A>G
ENST00000533129.5:c.844-61A>G ENSP00000431686.1:n.844-61A>G
ENST00000533820.5:c.844-61A>G ENSP00000435272.1:n.844-61A>G
XM_006718698.1:c.844-61A>G XP_006718761.1:n.844-61A>G
XM_006718698.2:c.844-61A>G XP_006718761.1:n.844-61A>G
XM_011545292.1:c.844-61A>G XP_011543594.1:n.844-61A>G