Canonical Allele Identifier: CA184524

Gene: CSRP3

Linked Data

• ClinVar Variation Id: 179488
• ClinVar RCV Id: RCV000156278 ; RCV002345517 ; RCV003764967
• dbSNP Id: rs727504899
• gnomAD v4: 11-19182716-C-A
• MyVariant Identifiers: chr11:g.19204263C>A (hg19) ; chr11:g.19182716C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.19182716C>A , CM000673.2:g.19182716C>A	GRCh38
NC_000011.9:g.19204263C>A , CM000673.1:g.19204263C>A	GRCh37
NC_000011.8:g.19160839C>A	NCBI36
NG_011932.2:g.32858G>T , LRG_440:g.32858G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265968.9:c.539G>T MANE Select	ENSP00000265968.3:p.Gly180Val
ENST00000533783.2:c.539G>T	ENSP00000431813.1:p.Gly180Val
ENST00000647990.1:c.406G>T	ENSP00000496798.1:p.Val136Leu
ENST00000648719.1:c.*57G>T	ENSP00000497633.1:n.*57G>T
ENST00000649235.1:c.539G>T	ENSP00000497388.1:p.Gly180Val
ENST00000649842.1:c.370G>T	ENSP00000497531.1:p.Val124Leu
ENST00000265968.7:c.539G>T	ENSP00000265968.3:p.Gly180Val
ENST00000533783.1:c.539G>T	ENSP00000431813.1:p.Gly180Val
NM_003476.4:c.539G>T	NP_003467.1:p.Gly180Val
XM_024448698.1:c.370G>T	XP_024304466.1:p.Val124Leu
NM_001369404.1:c.370G>T	NP_001356333.1:p.Val124Leu
NM_003476.5:c.539G>T MANE Select	NP_003467.1:p.Gly180Val