Canonical Allele Identifier: CA381337091

Gene: CATSPER1

Linked Data

• MyVariant Identifiers: chr11:g.65792811C>G (hg19) ; chr11:g.66025340C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66025340C>G , CM000673.2:g.66025340C>G	GRCh38
NC_000011.9:g.65792811C>G , CM000673.1:g.65792811C>G	GRCh37
NC_000011.8:g.65549387C>G	NCBI36
NG_016285.1:g.6178G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000312106.6:c.1040G>C MANE Select	ENSP00000309052.5:p.Gly347Ala
ENST00000312106.5:c.1040G>C	ENSP00000309052.5:p.Gly347Ala
NM_053054.3:c.1040G>C	NP_444282.3:p.Gly347Ala
XR_949785.1:n.1180G>C
XR_949786.1:n.1180G>C
XR_949787.1:n.1180G>C
XR_002957121.1:n.1178G>C
XR_002957122.1:n.1179G>C
XR_949785.2:n.1178G>C
XR_949787.2:n.1179G>C
NM_053054.4:c.1040G>C MANE Select	NP_444282.3:p.Gly347Ala