Canonical Allele Identifier: CA381337289
Gene: CATSPER1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66025364G>A , CM000673.2:g.66025364G>A GRCh38
NC_000011.9:g.65792835G>A , CM000673.1:g.65792835G>A GRCh37
NC_000011.8:g.65549411G>A NCBI36
NG_016285.1:g.6154C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000312106.6:c.1016C>T MANE Select ENSP00000309052.5:p.Pro339Leu
ENST00000312106.5:c.1016C>T ENSP00000309052.5:p.Pro339Leu
NM_053054.3:c.1016C>T NP_444282.3:p.Pro339Leu
XR_949785.1:n.1156C>T
XR_949786.1:n.1156C>T
XR_949787.1:n.1156C>T
XR_002957121.1:n.1154C>T
XR_002957122.1:n.1155C>T
XR_949785.2:n.1154C>T
XR_949787.2:n.1155C>T
NM_053054.4:c.1016C>T MANE Select NP_444282.3:p.Pro339Leu