Canonical Allele Identifier: CA732731300

Gene: CAPN9

Linked Data

• dbSNP Id: rs1399386177
• MyVariant Identifiers: chr1:g.230922886A>C (hg19) ; chr1:g.230787140A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230787140A>C , CM000663.2:g.230787140A>C	GRCh38
NC_000001.10:g.230922886A>C , CM000663.1:g.230922886A>C	GRCh37
NC_000001.9:g.228989509A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271971.7:c.1519-382A>C MANE Select	ENSP00000271971.2:n.1519-382A>C
ENST00000271971.6:c.1519-382A>C	ENSP00000271971.2:n.1519-382A>C
ENST00000354537.1:c.1441-382A>C	ENSP00000346538.1:n.1441-382A>C
ENST00000366666.6:c.1330-382A>C	ENSP00000355626.2:n.1330-382A>C
NM_006615.2:c.1519-382A>C	NP_006606.1:n.1519-382A>C
NM_016452.1:c.1441-382A>C	NP_057536.1:n.1441-382A>C
XM_005273010.2:c.1330-382A>C	XP_005273067.1:n.1330-382A>C
XM_011544017.1:c.1519-382A>C	XP_011542319.1:n.1519-382A>C
XM_011544018.1:c.1441-382A>C	XP_011542320.1:n.1441-382A>C
XM_011544019.1:c.1330-382A>C	XP_011542321.1:n.1330-382A>C
XM_011544020.1:c.934-382A>C	XP_011542322.1:n.934-382A>C
XR_949127.1:n.1734-382A>C
NM_001319676.1:c.1330-382A>C	NP_001306605.1:n.1330-382A>C
NM_016452.2:c.1441-382A>C	NP_057536.1:n.1441-382A>C
XM_011544019.2:c.1330-382A>C	XP_011542321.1:n.1330-382A>C
XM_017000098.1:c.1435-382A>C	XP_016855587.1:n.1435-382A>C
XM_017000099.1:c.934-382A>C	XP_016855588.1:n.934-382A>C
XM_024452513.1:c.565-382A>C	XP_024308281.1:n.565-382A>C
XM_024452514.1:c.565-382A>C	XP_024308282.1:n.565-382A>C
XR_001736933.1:n.1616-382A>C
XR_001738518.1:n.84+7973T>G
NM_006615.3:c.1519-382A>C MANE Select	NP_006606.1:n.1519-382A>C
NM_001319676.2:c.1330-382A>C	NP_001306605.1:n.1330-382A>C
NM_016452.3:c.1441-382A>C	NP_057536.1:n.1441-382A>C