Canonical Allele Identifier: CA381338033

Gene: CATSPER1

Linked Data

• dbSNP Id: rs1856476328
• gnomAD v4: 11-66025407-G-A
• MyVariant Identifiers: chr11:g.65792878G>A (hg19) ; chr11:g.66025407G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66025407G>A , CM000673.2:g.66025407G>A	GRCh38
NC_000011.9:g.65792878G>A , CM000673.1:g.65792878G>A	GRCh37
NC_000011.8:g.65549454G>A	NCBI36
NG_016285.1:g.6111C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312106.6:c.973C>T MANE Select	ENSP00000309052.5:p.Leu325Phe
ENST00000312106.5:c.973C>T	ENSP00000309052.5:p.Leu325Phe
NM_053054.3:c.973C>T	NP_444282.3:p.Leu325Phe
XR_949785.1:n.1113C>T
XR_949786.1:n.1113C>T
XR_949787.1:n.1113C>T
XR_002957121.1:n.1111C>T
XR_002957122.1:n.1112C>T
XR_949785.2:n.1111C>T
XR_949787.2:n.1112C>T
NM_053054.4:c.973C>T MANE Select	NP_444282.3:p.Leu325Phe