Canonical Allele Identifier: CA381338349

Gene: CATSPER1

Linked Data

• MyVariant Identifiers: chr11:g.65792911G>T (hg19) ; chr11:g.66025440G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66025440G>T , CM000673.2:g.66025440G>T	GRCh38
NC_000011.9:g.65792911G>T , CM000673.1:g.65792911G>T	GRCh37
NC_000011.8:g.65549487G>T	NCBI36
NG_016285.1:g.6078C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000312106.6:c.940C>A MANE Select	ENSP00000309052.5:p.Leu314Ile
ENST00000312106.5:c.940C>A	ENSP00000309052.5:p.Leu314Ile
NM_053054.3:c.940C>A	NP_444282.3:p.Leu314Ile
XR_949785.1:n.1080C>A
XR_949786.1:n.1080C>A
XR_949787.1:n.1080C>A
XR_002957121.1:n.1078C>A
XR_002957122.1:n.1079C>A
XR_949785.2:n.1078C>A
XR_949787.2:n.1079C>A
NM_053054.4:c.940C>A MANE Select	NP_444282.3:p.Leu314Ile