Canonical Allele Identifier: CA475482835

Gene: CATSPER1

Linked Data

• COSMIC: COSM3451950
• MyVariant Identifiers: chr11:g.65792909G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66025438G>A , CM000673.2:g.66025438G>A	GRCh38
NC_000011.9:g.65792909G>A , CM000673.1:g.65792909G>A	GRCh37
NC_000011.8:g.65549485G>A	NCBI36
NG_016285.1:g.6080C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000312106.6:c.942C>T MANE Select	ENSP00000309052.5:p.Leu314=
ENST00000312106.5:c.942C>T	ENSP00000309052.5:p.Leu314=
NM_053054.3:c.942C>T	NP_444282.3:p.Leu314=
XR_949785.1:n.1082C>T
XR_949786.1:n.1082C>T
XR_949787.1:n.1082C>T
XR_002957121.1:n.1080C>T
XR_002957122.1:n.1081C>T
XR_949785.2:n.1080C>T
XR_949787.2:n.1081C>T
NM_053054.4:c.942C>T MANE Select	NP_444282.3:p.Leu314=