Canonical Allele Identifier: CA379888361

Gene: CSRP3

Linked Data

• ClinVar Variation Id: 1444664
• ClinVar RCV Id: RCV001982529
• dbSNP Id: rs1253887422
• gnomAD v4: 11-19188258-C-G
• MyVariant Identifiers: chr11:g.19209805C>G (hg19) ; chr11:g.19188258C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.19188258C>G , CM000673.2:g.19188258C>G	GRCh38
NC_000011.9:g.19209805C>G , CM000673.1:g.19209805C>G	GRCh37
NC_000011.8:g.19166381C>G	NCBI36
NG_011932.2:g.27316G>C , LRG_440:g.27316G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265968.9:c.159G>C MANE Select	ENSP00000265968.3:p.Glu53Asp
ENST00000533783.2:c.159G>C	ENSP00000431813.1:p.Glu53Asp
ENST00000647990.1:c.159G>C	ENSP00000496798.1:p.Glu53Asp
ENST00000648719.1:c.113-3213G>C	ENSP00000497633.1:n.113-3213G>C
ENST00000649235.1:c.159G>C	ENSP00000497388.1:p.Glu53Asp
ENST00000649842.1:c.113-1910G>C	ENSP00000497531.1:n.113-1910G>C
ENST00000265968.7:c.159G>C	ENSP00000265968.3:p.Glu53Asp
ENST00000533783.1:c.159G>C	ENSP00000431813.1:p.Glu53Asp
NM_003476.4:c.159G>C	NP_003467.1:p.Glu53Asp
XM_024448698.1:c.113-1910G>C	XP_024304466.1:n.113-1910G>C
NM_001369404.1:c.113-1910G>C	NP_001356333.1:n.113-1910G>C
NM_003476.5:c.159G>C MANE Select	NP_003467.1:p.Glu53Asp