Canonical Allele Identifier: CA335112

Gene: CSRP3

Linked Data

• ClinVar Variation Id: 201696
• ClinVar RCV Id: RCV000183340
• dbSNP Id: rs757433657
• MyVariant Identifiers: chr11:g.19206499C>A (hg19) ; chr11:g.19184952C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.19184952C>A , CM000673.2:g.19184952C>A	GRCh38
NC_000011.9:g.19206499C>A , CM000673.1:g.19206499C>A	GRCh37
NC_000011.8:g.19163075C>A	NCBI36
NG_011932.2:g.30622G>T , LRG_440:g.30622G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265968.9:c.508G>T MANE Select	ENSP00000265968.3:p.Val170Phe
ENST00000533783.2:c.508G>T	ENSP00000431813.1:p.Val170Phe
ENST00000647990.1:c.375G>T	ENSP00000496798.1:p.Lys125Asn
ENST00000648719.1:c.*26G>T	ENSP00000497633.1:n.*26G>T
ENST00000649235.1:c.508G>T	ENSP00000497388.1:p.Val170Phe
ENST00000649842.1:c.339G>T	ENSP00000497531.1:p.Lys113Asn
ENST00000265968.7:c.508G>T	ENSP00000265968.3:p.Val170Phe
ENST00000533783.1:c.508G>T	ENSP00000431813.1:p.Val170Phe
NM_003476.4:c.508G>T	NP_003467.1:p.Val170Phe
XM_024448698.1:c.339G>T	XP_024304466.1:p.Lys113Asn
NM_001369404.1:c.339G>T	NP_001356333.1:p.Lys113Asn
NM_003476.5:c.508G>T MANE Select	NP_003467.1:p.Val170Phe