Canonical Allele Identifier: CA381337105

Gene: CATSPER1

Linked Data

• MyVariant Identifiers: chr11:g.65792814G>A (hg19) ; chr11:g.66025343G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66025343G>A , CM000673.2:g.66025343G>A	GRCh38
NC_000011.9:g.65792814G>A , CM000673.1:g.65792814G>A	GRCh37
NC_000011.8:g.65549390G>A	NCBI36
NG_016285.1:g.6175C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000312106.6:c.1037C>T MANE Select	ENSP00000309052.5:p.Thr346Ile
ENST00000312106.5:c.1037C>T	ENSP00000309052.5:p.Thr346Ile
NM_053054.3:c.1037C>T	NP_444282.3:p.Thr346Ile
XR_949785.1:n.1177C>T
XR_949786.1:n.1177C>T
XR_949787.1:n.1177C>T
XR_002957121.1:n.1175C>T
XR_002957122.1:n.1176C>T
XR_949785.2:n.1175C>T
XR_949787.2:n.1176C>T
NM_053054.4:c.1037C>T MANE Select	NP_444282.3:p.Thr346Ile