Canonical Allele Identifier: CA335106

Gene: CSRP3

Linked Data

• ClinVar Variation Id: 201694
• ClinVar RCV Id: RCV000320610 ; RCV001341005 ; RCV002444740 ; RCV001704877
• dbSNP Id: rs746207
• ExAC: 11:19209735 C / A
• gnomAD v2: 11-19209735-C-A
• gnomAD v4: 11-19188188-C-A
• COSMIC: COSM388972
• MyVariant Identifiers: chr11:g.19209735C>A (hg19) ; chr11:g.19188188C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.19188188C>A , CM000673.2:g.19188188C>A	GRCh38
NC_000011.9:g.19209735C>A , CM000673.1:g.19209735C>A	GRCh37
NC_000011.8:g.19166311C>A	NCBI36
NG_011932.2:g.27386G>T , LRG_440:g.27386G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265968.9:c.229G>T MANE Select	ENSP00000265968.3:p.Ala77Ser
ENST00000533783.2:c.229G>T	ENSP00000431813.1:p.Ala77Ser
ENST00000647990.1:c.229G>T	ENSP00000496798.1:p.Ala77Ser
ENST00000648719.1:c.113-3143G>T	ENSP00000497633.1:n.113-3143G>T
ENST00000649235.1:c.229G>T	ENSP00000497388.1:p.Ala77Ser
ENST00000649842.1:c.113-1840G>T	ENSP00000497531.1:n.113-1840G>T
ENST00000265968.7:c.229G>T	ENSP00000265968.3:p.Ala77Ser
ENST00000533783.1:c.229G>T	ENSP00000431813.1:p.Ala77Ser
NM_003476.4:c.229G>T	NP_003467.1:p.Ala77Ser
XM_024448698.1:c.113-1840G>T	XP_024304466.1:n.113-1840G>T
NM_001369404.1:c.113-1840G>T	NP_001356333.1:n.113-1840G>T
NM_003476.5:c.229G>T MANE Select	NP_003467.1:p.Ala77Ser