Canonical Allele Identifier: CA2562402379
Gene: CAPN9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.230787204G>T , CM000663.2:g.230787204G>T GRCh38
NC_000001.10:g.230922950G>T , CM000663.1:g.230922950G>T GRCh37
NC_000001.9:g.228989573G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000271971.7:c.1519-318G>T MANE Select ENSP00000271971.2:n.1519-318G>T
ENST00000271971.6:c.1519-318G>T ENSP00000271971.2:n.1519-318G>T
ENST00000354537.1:c.1441-318G>T ENSP00000346538.1:n.1441-318G>T
ENST00000366666.6:c.1330-318G>T ENSP00000355626.2:n.1330-318G>T
NM_006615.2:c.1519-318G>T NP_006606.1:n.1519-318G>T
NM_016452.1:c.1441-318G>T NP_057536.1:n.1441-318G>T
XM_005273010.2:c.1330-318G>T XP_005273067.1:n.1330-318G>T
XM_011544017.1:c.1519-318G>T XP_011542319.1:n.1519-318G>T
XM_011544018.1:c.1441-318G>T XP_011542320.1:n.1441-318G>T
XM_011544019.1:c.1330-318G>T XP_011542321.1:n.1330-318G>T
XM_011544020.1:c.934-318G>T XP_011542322.1:n.934-318G>T
XR_949127.1:n.1734-318G>T
NM_001319676.1:c.1330-318G>T NP_001306605.1:n.1330-318G>T
NM_016452.2:c.1441-318G>T NP_057536.1:n.1441-318G>T
XM_011544019.2:c.1330-318G>T XP_011542321.1:n.1330-318G>T
XM_017000098.1:c.1435-318G>T XP_016855587.1:n.1435-318G>T
XM_017000099.1:c.934-318G>T XP_016855588.1:n.934-318G>T
XM_024452513.1:c.565-318G>T XP_024308281.1:n.565-318G>T
XM_024452514.1:c.565-318G>T XP_024308282.1:n.565-318G>T
XR_001736933.1:n.1616-318G>T
XR_001738518.1:n.84+7909C>A
NM_006615.3:c.1519-318G>T MANE Select NP_006606.1:n.1519-318G>T
NM_001319676.2:c.1330-318G>T NP_001306605.1:n.1330-318G>T
NM_016452.3:c.1441-318G>T NP_057536.1:n.1441-318G>T