Canonical Allele Identifier: CA38885979

Gene: CAPN9

Linked Data

• dbSNP Id: rs577228437
• gnomAD v2: 1-230922719-G-A
• gnomAD v3: 1-230786973-G-A
• gnomAD v4: 1-230786973-G-A
• MyVariant Identifiers: chr1:g.230922719G>A (hg19) ; chr1:g.230786973G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230786973G>A , CM000663.2:g.230786973G>A	GRCh38
NC_000001.10:g.230922719G>A , CM000663.1:g.230922719G>A	GRCh37
NC_000001.9:g.228989342G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271971.7:c.1519-549G>A MANE Select	ENSP00000271971.2:n.1519-549G>A
ENST00000271971.6:c.1519-549G>A	ENSP00000271971.2:n.1519-549G>A
ENST00000354537.1:c.1441-549G>A	ENSP00000346538.1:n.1441-549G>A
ENST00000366666.6:c.1330-549G>A	ENSP00000355626.2:n.1330-549G>A
NM_006615.2:c.1519-549G>A	NP_006606.1:n.1519-549G>A
NM_016452.1:c.1441-549G>A	NP_057536.1:n.1441-549G>A
XM_005273010.2:c.1330-549G>A	XP_005273067.1:n.1330-549G>A
XM_011544017.1:c.1519-549G>A	XP_011542319.1:n.1519-549G>A
XM_011544018.1:c.1441-549G>A	XP_011542320.1:n.1441-549G>A
XM_011544019.1:c.1330-549G>A	XP_011542321.1:n.1330-549G>A
XM_011544020.1:c.934-549G>A	XP_011542322.1:n.934-549G>A
XR_949127.1:n.1734-549G>A
NM_001319676.1:c.1330-549G>A	NP_001306605.1:n.1330-549G>A
NM_016452.2:c.1441-549G>A	NP_057536.1:n.1441-549G>A
XM_011544019.2:c.1330-549G>A	XP_011542321.1:n.1330-549G>A
XM_017000098.1:c.1435-549G>A	XP_016855587.1:n.1435-549G>A
XM_017000099.1:c.934-549G>A	XP_016855588.1:n.934-549G>A
XM_024452513.1:c.565-549G>A	XP_024308281.1:n.565-549G>A
XM_024452514.1:c.565-549G>A	XP_024308282.1:n.565-549G>A
XR_001736933.1:n.1616-549G>A
XR_001738518.1:n.84+8140C>T
NM_006615.3:c.1519-549G>A MANE Select	NP_006606.1:n.1519-549G>A
NM_001319676.2:c.1330-549G>A	NP_001306605.1:n.1330-549G>A
NM_016452.3:c.1441-549G>A	NP_057536.1:n.1441-549G>A