Canonical Allele Identifier: CA381337663

Gene: CATSPER1

Linked Data

• MyVariant Identifiers: chr11:g.65792854T>G (hg19) ; chr11:g.66025383T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66025383T>G , CM000673.2:g.66025383T>G	GRCh38
NC_000011.9:g.65792854T>G , CM000673.1:g.65792854T>G	GRCh37
NC_000011.8:g.65549430T>G	NCBI36
NG_016285.1:g.6135A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312106.6:c.997A>C MANE Select	ENSP00000309052.5:p.Ser333Arg
ENST00000312106.5:c.997A>C	ENSP00000309052.5:p.Ser333Arg
NM_053054.3:c.997A>C	NP_444282.3:p.Ser333Arg
XR_949785.1:n.1137A>C
XR_949786.1:n.1137A>C
XR_949787.1:n.1137A>C
XR_002957121.1:n.1135A>C
XR_002957122.1:n.1136A>C
XR_949785.2:n.1135A>C
XR_949787.2:n.1136A>C
NM_053054.4:c.997A>C MANE Select	NP_444282.3:p.Ser333Arg