Canonical Allele Identifier: CA475482757

Gene: CATSPER1

Linked Data

• MyVariant Identifiers: chr11:g.65792819A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66025348A>C , CM000673.2:g.66025348A>C	GRCh38
NC_000011.9:g.65792819A>C , CM000673.1:g.65792819A>C	GRCh37
NC_000011.8:g.65549395A>C	NCBI36
NG_016285.1:g.6170T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000312106.6:c.1032T>G MANE Select	ENSP00000309052.5:p.Ser344=
ENST00000312106.5:c.1032T>G	ENSP00000309052.5:p.Ser344=
NM_053054.3:c.1032T>G	NP_444282.3:p.Ser344=
XR_949785.1:n.1172T>G
XR_949786.1:n.1172T>G
XR_949787.1:n.1172T>G
XR_002957121.1:n.1170T>G
XR_002957122.1:n.1171T>G
XR_949785.2:n.1170T>G
XR_949787.2:n.1171T>G
NM_053054.4:c.1032T>G MANE Select	NP_444282.3:p.Ser344=