Canonical Allele Identifier: CA379888229

Gene: CSRP3

Linked Data

• ClinVar Variation Id: 657408
• ClinVar RCV Id: RCV000814002
• dbSNP Id: rs776862812
• MyVariant Identifiers: chr11:g.19209741G>C (hg19) ; chr11:g.19188194G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.19188194G>C , CM000673.2:g.19188194G>C	GRCh38
NC_000011.9:g.19209741G>C , CM000673.1:g.19209741G>C	GRCh37
NC_000011.8:g.19166317G>C	NCBI36
NG_011932.2:g.27380C>G , LRG_440:g.27380C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265968.9:c.223C>G MANE Select	ENSP00000265968.3:p.Gln75Glu
ENST00000533783.2:c.223C>G	ENSP00000431813.1:p.Gln75Glu
ENST00000647990.1:c.223C>G	ENSP00000496798.1:p.Gln75Glu
ENST00000648719.1:c.113-3149C>G	ENSP00000497633.1:n.113-3149C>G
ENST00000649235.1:c.223C>G	ENSP00000497388.1:p.Gln75Glu
ENST00000649842.1:c.113-1846C>G	ENSP00000497531.1:n.113-1846C>G
ENST00000265968.7:c.223C>G	ENSP00000265968.3:p.Gln75Glu
ENST00000533783.1:c.223C>G	ENSP00000431813.1:p.Gln75Glu
NM_003476.4:c.223C>G	NP_003467.1:p.Gln75Glu
XM_024448698.1:c.113-1846C>G	XP_024304466.1:n.113-1846C>G
NM_001369404.1:c.113-1846C>G	NP_001356333.1:n.113-1846C>G
NM_003476.5:c.223C>G MANE Select	NP_003467.1:p.Gln75Glu