Canonical Allele Identifier: CA119911

Gene: CSRP3

Linked Data

• ClinVar Variation Id: 8777
• ClinVar RCV Id: RCV000009322 ; RCV002399315
• dbSNP Id: rs104894204
• gnomAD v4: 11-19188245-A-C
• MyVariant Identifiers: chr11:g.19209792A>C (hg19) ; chr11:g.19188245A>C (hg38)
• PubMed: PMID:12642359 ; PMID:18505755

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.19188245A>C , CM000673.2:g.19188245A>C	GRCh38
NC_000011.9:g.19209792A>C , CM000673.1:g.19209792A>C	GRCh37
NC_000011.8:g.19166368A>C	NCBI36
NG_011932.2:g.27329T>G , LRG_440:g.27329T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265968.9:c.172T>G MANE Select	ENSP00000265968.3:p.Cys58Gly
ENST00000533783.2:c.172T>G	ENSP00000431813.1:p.Cys58Gly
ENST00000647990.1:c.172T>G	ENSP00000496798.1:p.Cys58Gly
ENST00000648719.1:c.113-3200T>G	ENSP00000497633.1:n.113-3200T>G
ENST00000649235.1:c.172T>G	ENSP00000497388.1:p.Cys58Gly
ENST00000649842.1:c.113-1897T>G	ENSP00000497531.1:n.113-1897T>G
ENST00000265968.7:c.172T>G	ENSP00000265968.3:p.Cys58Gly
ENST00000533783.1:c.172T>G	ENSP00000431813.1:p.Cys58Gly
NM_003476.4:c.172T>G	NP_003467.1:p.Cys58Gly
XM_024448698.1:c.113-1897T>G	XP_024304466.1:n.113-1897T>G
NM_001369404.1:c.113-1897T>G	NP_001356333.1:n.113-1897T>G
NM_003476.5:c.172T>G MANE Select	NP_003467.1:p.Cys58Gly