Canonical Allele Identifier: CA333056

Gene: CSRP3

Linked Data

• ClinVar Variation Id: 137035
• ClinVar RCV Id: RCV001107936
• dbSNP Id: rs112848043
• ExAC: 11:19209802 C / T
• gnomAD v2: 11-19209802-C-T
• gnomAD v3: 11-19188255-C-T
• gnomAD v4: 11-19188255-C-T
• MyVariant Identifiers: chr11:g.19209802C>T (hg19) ; chr11:g.19188255C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.19188255C>T , CM000673.2:g.19188255C>T	GRCh38
NC_000011.9:g.19209802C>T , CM000673.1:g.19209802C>T	GRCh37
NC_000011.8:g.19166378C>T	NCBI36
NG_011932.2:g.27319G>A , LRG_440:g.27319G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265968.9:c.162G>A MANE Select	ENSP00000265968.3:p.Ser54=
ENST00000533783.2:c.162G>A	ENSP00000431813.1:p.Ser54=
ENST00000647990.1:c.162G>A	ENSP00000496798.1:p.Ser54=
ENST00000648719.1:c.113-3210G>A	ENSP00000497633.1:n.113-3210G>A
ENST00000649235.1:c.162G>A	ENSP00000497388.1:p.Ser54=
ENST00000649842.1:c.113-1907G>A	ENSP00000497531.1:n.113-1907G>A
ENST00000265968.7:c.162G>A	ENSP00000265968.3:p.Ser54=
ENST00000533783.1:c.162G>A	ENSP00000431813.1:p.Ser54=
NM_003476.4:c.162G>A	NP_003467.1:p.Ser54=
XM_024448698.1:c.113-1907G>A	XP_024304466.1:n.113-1907G>A
NM_001369404.1:c.113-1907G>A	NP_001356333.1:n.113-1907G>A
NM_003476.5:c.162G>A MANE Select	NP_003467.1:p.Ser54=