Canonical Allele Identifier: CA1448874

Gene: CAPN9

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230779121C>T , CM000663.2:g.230779121C>T	GRCh38
NC_000001.10:g.230914867C>T , CM000663.1:g.230914867C>T	GRCh37
NC_000001.9:g.228981490C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271971.7:c.1102C>T MANE Select	ENSP00000271971.2:p.Arg368Cys
ENST00000271971.6:c.1102C>T	ENSP00000271971.2:p.Arg368Cys
ENST00000354537.1:c.1024C>T	ENSP00000346538.1:p.Arg342Cys
ENST00000366666.6:c.913C>T	ENSP00000355626.2:p.Arg305Cys
NM_006615.2:c.1102C>T	NP_006606.1:p.Arg368Cys
NM_016452.1:c.1024C>T	NP_057536.1:p.Arg342Cys
XM_005273010.2:c.913C>T	XP_005273067.1:p.Arg305Cys
XM_011544017.1:c.1102C>T	XP_011542319.1:p.Arg368Cys
XM_011544018.1:c.1024C>T	XP_011542320.1:p.Arg342Cys
XM_011544019.1:c.913C>T	XP_011542321.1:p.Arg305Cys
XM_011544020.1:c.517C>T	XP_011542322.1:p.Arg173Cys
XR_949127.1:n.1199C>T
NM_001319676.1:c.913C>T	NP_001306605.1:p.Arg305Cys
NM_016452.2:c.1024C>T	NP_057536.1:p.Arg342Cys
XM_011544019.2:c.913C>T	XP_011542321.1:p.Arg305Cys
XM_017000098.1:c.1018C>T	XP_016855587.1:p.Arg340Cys
XM_017000099.1:c.517C>T	XP_016855588.1:p.Arg173Cys
XM_024452513.1:c.148C>T	XP_024308281.1:p.Arg50Cys
XM_024452514.1:c.148C>T	XP_024308282.1:p.Arg50Cys
XR_001736933.1:n.1199C>T
XR_001738518.1:n.85-2373G>A
NM_006615.3:c.1102C>T MANE Select	NP_006606.1:p.Arg368Cys
NM_001319676.2:c.913C>T	NP_001306605.1:p.Arg305Cys
NM_016452.3:c.1024C>T	NP_057536.1:p.Arg342Cys