Canonical Allele Identifier: CA1226700470
Gene: CAPN9 HGNC NCBI

Linked Data

dbSNP Id: rs1667644258

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.230787111C>G , CM000663.2:g.230787111C>G GRCh38
NC_000001.10:g.230922857C>G , CM000663.1:g.230922857C>G GRCh37
NC_000001.9:g.228989480C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000271971.7:c.1519-411C>G MANE Select ENSP00000271971.2:n.1519-411C>G
ENST00000271971.6:c.1519-411C>G ENSP00000271971.2:n.1519-411C>G
ENST00000354537.1:c.1441-411C>G ENSP00000346538.1:n.1441-411C>G
ENST00000366666.6:c.1330-411C>G ENSP00000355626.2:n.1330-411C>G
NM_006615.2:c.1519-411C>G NP_006606.1:n.1519-411C>G
NM_016452.1:c.1441-411C>G NP_057536.1:n.1441-411C>G
XM_005273010.2:c.1330-411C>G XP_005273067.1:n.1330-411C>G
XM_011544017.1:c.1519-411C>G XP_011542319.1:n.1519-411C>G
XM_011544018.1:c.1441-411C>G XP_011542320.1:n.1441-411C>G
XM_011544019.1:c.1330-411C>G XP_011542321.1:n.1330-411C>G
XM_011544020.1:c.934-411C>G XP_011542322.1:n.934-411C>G
XR_949127.1:n.1734-411C>G
NM_001319676.1:c.1330-411C>G NP_001306605.1:n.1330-411C>G
NM_016452.2:c.1441-411C>G NP_057536.1:n.1441-411C>G
XM_011544019.2:c.1330-411C>G XP_011542321.1:n.1330-411C>G
XM_017000098.1:c.1435-411C>G XP_016855587.1:n.1435-411C>G
XM_017000099.1:c.934-411C>G XP_016855588.1:n.934-411C>G
XM_024452513.1:c.565-411C>G XP_024308281.1:n.565-411C>G
XM_024452514.1:c.565-411C>G XP_024308282.1:n.565-411C>G
XR_001736933.1:n.1616-411C>G
XR_001738518.1:n.84+8002G>C
NM_006615.3:c.1519-411C>G MANE Select NP_006606.1:n.1519-411C>G
NM_001319676.2:c.1330-411C>G NP_001306605.1:n.1330-411C>G
NM_016452.3:c.1441-411C>G NP_057536.1:n.1441-411C>G