Canonical Allele Identifier: CA475482760

Gene: CATSPER1

Linked Data

• MyVariant Identifiers: chr11:g.65792822A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66025351A>C , CM000673.2:g.66025351A>C	GRCh38
NC_000011.9:g.65792822A>C , CM000673.1:g.65792822A>C	GRCh37
NC_000011.8:g.65549398A>C	NCBI36
NG_016285.1:g.6167T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000312106.6:c.1029T>G MANE Select	ENSP00000309052.5:p.Ala343=
ENST00000312106.5:c.1029T>G	ENSP00000309052.5:p.Ala343=
NM_053054.3:c.1029T>G	NP_444282.3:p.Ala343=
XR_949785.1:n.1169T>G
XR_949786.1:n.1169T>G
XR_949787.1:n.1169T>G
XR_002957121.1:n.1167T>G
XR_002957122.1:n.1168T>G
XR_949785.2:n.1167T>G
XR_949787.2:n.1168T>G
NM_053054.4:c.1029T>G MANE Select	NP_444282.3:p.Ala343=