Canonical Allele Identifier: CA381337121

Gene: CATSPER1

Linked Data

• gnomAD v4: 11-66025346-C-G
• MyVariant Identifiers: chr11:g.65792817C>G (hg19) ; chr11:g.66025346C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66025346C>G , CM000673.2:g.66025346C>G	GRCh38
NC_000011.9:g.65792817C>G , CM000673.1:g.65792817C>G	GRCh37
NC_000011.8:g.65549393C>G	NCBI36
NG_016285.1:g.6172G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000312106.6:c.1034G>C MANE Select	ENSP00000309052.5:p.Arg345Pro
ENST00000312106.5:c.1034G>C	ENSP00000309052.5:p.Arg345Pro
NM_053054.3:c.1034G>C	NP_444282.3:p.Arg345Pro
XR_949785.1:n.1174G>C
XR_949786.1:n.1174G>C
XR_949787.1:n.1174G>C
XR_002957121.1:n.1172G>C
XR_002957122.1:n.1173G>C
XR_949785.2:n.1172G>C
XR_949787.2:n.1173G>C
NM_053054.4:c.1034G>C MANE Select	NP_444282.3:p.Arg345Pro