Canonical Allele Identifier: CA381337019

Gene: CATSPER1

Linked Data

• MyVariant Identifiers: chr11:g.65792803G>C (hg19) ; chr11:g.66025332G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66025332G>C , CM000673.2:g.66025332G>C	GRCh38
NC_000011.9:g.65792803G>C , CM000673.1:g.65792803G>C	GRCh37
NC_000011.8:g.65549379G>C	NCBI36
NG_016285.1:g.6186C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312106.6:c.1048C>G MANE Select	ENSP00000309052.5:p.Pro350Ala
ENST00000312106.5:c.1048C>G	ENSP00000309052.5:p.Pro350Ala
NM_053054.3:c.1048C>G	NP_444282.3:p.Pro350Ala
XR_949785.1:n.1188C>G
XR_949786.1:n.1188C>G
XR_949787.1:n.1188C>G
XR_002957121.1:n.1186C>G
XR_002957122.1:n.1187C>G
XR_949785.2:n.1186C>G
XR_949787.2:n.1187C>G
NM_053054.4:c.1048C>G MANE Select	NP_444282.3:p.Pro350Ala