Canonical Allele Identifier: CA5916632

Gene: CSRP3

Linked Data

• ClinVar Variation Id: 944590
• ClinVar RCV Id: RCV001215019 ; RCV003373043
• dbSNP Id: rs767360228
• ExAC: 11:19209796 G / C
• gnomAD v2: 11-19209796-G-C
• gnomAD v3: 11-19188249-G-C
• gnomAD v4: 11-19188249-G-C
• MyVariant Identifiers: chr11:g.19209796G>C (hg19) ; chr11:g.19188249G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.19188249G>C , CM000673.2:g.19188249G>C	GRCh38
NC_000011.9:g.19209796G>C , CM000673.1:g.19209796G>C	GRCh37
NC_000011.8:g.19166372G>C	NCBI36
NG_011932.2:g.27325C>G , LRG_440:g.27325C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265968.9:c.168C>G MANE Select	ENSP00000265968.3:p.Ile56Met
ENST00000533783.2:c.168C>G	ENSP00000431813.1:p.Ile56Met
ENST00000647990.1:c.168C>G	ENSP00000496798.1:p.Ile56Met
ENST00000648719.1:c.113-3204C>G	ENSP00000497633.1:n.113-3204C>G
ENST00000649235.1:c.168C>G	ENSP00000497388.1:p.Ile56Met
ENST00000649842.1:c.113-1901C>G	ENSP00000497531.1:n.113-1901C>G
ENST00000265968.7:c.168C>G	ENSP00000265968.3:p.Ile56Met
ENST00000533783.1:c.168C>G	ENSP00000431813.1:p.Ile56Met
NM_003476.4:c.168C>G	NP_003467.1:p.Ile56Met
XM_024448698.1:c.113-1901C>G	XP_024304466.1:n.113-1901C>G
NM_001369404.1:c.113-1901C>G	NP_001356333.1:n.113-1901C>G
NM_003476.5:c.168C>G MANE Select	NP_003467.1:p.Ile56Met