Canonical Allele Identifier: CA181186
Gene: CSRP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 178014
dbSNP Id: rs727504436

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.19188145T>A , CM000673.2:g.19188145T>A GRCh38
NC_000011.9:g.19209692T>A , CM000673.1:g.19209692T>A GRCh37
NC_000011.8:g.19166268T>A NCBI36
NG_011932.2:g.27429A>T , LRG_440:g.27429A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265968.9:c.272A>T MANE Select ENSP00000265968.3:p.Gln91Leu
ENST00000533783.2:c.272A>T ENSP00000431813.1:p.Gln91Leu
ENST00000647990.1:c.272A>T ENSP00000496798.1:p.Gln91Leu
ENST00000648719.1:c.113-3100A>T ENSP00000497633.1:n.113-3100A>T
ENST00000649235.1:c.272A>T ENSP00000497388.1:p.Gln91Leu
ENST00000649842.1:c.113-1797A>T ENSP00000497531.1:n.113-1797A>T
ENST00000265968.7:c.272A>T ENSP00000265968.3:p.Gln91Leu
ENST00000533783.1:c.272A>T ENSP00000431813.1:p.Gln91Leu
NM_003476.4:c.272A>T NP_003467.1:p.Gln91Leu
XM_024448698.1:c.113-1797A>T XP_024304466.1:n.113-1797A>T
NM_001369404.1:c.113-1797A>T NP_001356333.1:n.113-1797A>T
NM_003476.5:c.272A>T MANE Select NP_003467.1:p.Gln91Leu