Canonical Allele Identifier: CA134869

Gene: CSRP3

Linked Data

• ClinVar Variation Id: 44686
• ClinVar RCV Id: RCV000037772
• dbSNP Id: rs397516852
• ExAC: 11:19209745 A / G
• gnomAD v4: 11-19188198-A-G
• MyVariant Identifiers: chr11:g.19209745A>G (hg19) ; chr11:g.19188198A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.19188198A>G , CM000673.2:g.19188198A>G	GRCh38
NC_000011.9:g.19209745A>G , CM000673.1:g.19209745A>G	GRCh37
NC_000011.8:g.19166321A>G	NCBI36
NG_011932.2:g.27376T>C , LRG_440:g.27376T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265968.9:c.219T>C MANE Select	ENSP00000265968.3:p.Tyr73=
ENST00000533783.2:c.219T>C	ENSP00000431813.1:p.Tyr73=
ENST00000647990.1:c.219T>C	ENSP00000496798.1:p.Tyr73=
ENST00000648719.1:c.113-3153T>C	ENSP00000497633.1:n.113-3153T>C
ENST00000649235.1:c.219T>C	ENSP00000497388.1:p.Tyr73=
ENST00000649842.1:c.113-1850T>C	ENSP00000497531.1:n.113-1850T>C
ENST00000265968.7:c.219T>C	ENSP00000265968.3:p.Tyr73=
ENST00000533783.1:c.219T>C	ENSP00000431813.1:p.Tyr73=
NM_003476.4:c.219T>C	NP_003467.1:p.Tyr73=
XM_024448698.1:c.113-1850T>C	XP_024304466.1:n.113-1850T>C
NM_001369404.1:c.113-1850T>C	NP_001356333.1:n.113-1850T>C
NM_003476.5:c.219T>C MANE Select	NP_003467.1:p.Tyr73=