Canonical Allele Identifier: CA175603

Gene: CSRP3

Linked Data

• ClinVar Variation Id: 163012
• ClinVar RCV Id: RCV000150368 ; RCV001107933 ; RCV001346369 ; RCV002453481
• dbSNP Id: rs367827746
• ExAC: 11:19209699 C / T
• gnomAD v2: 11-19209699-C-T
• gnomAD v3: 11-19188152-C-T
• gnomAD v4: 11-19188152-C-T
• MyVariant Identifiers: chr11:g.19209699C>T (hg19) ; chr11:g.19188152C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.19188152C>T , CM000673.2:g.19188152C>T	GRCh38
NC_000011.9:g.19209699C>T , CM000673.1:g.19209699C>T	GRCh37
NC_000011.8:g.19166275C>T	NCBI36
NG_011932.2:g.27422G>A , LRG_440:g.27422G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265968.9:c.265G>A MANE Select	ENSP00000265968.3:p.Gly89Ser
ENST00000533783.2:c.265G>A	ENSP00000431813.1:p.Gly89Ser
ENST00000647990.1:c.265G>A	ENSP00000496798.1:p.Gly89Ser
ENST00000648719.1:c.113-3107G>A	ENSP00000497633.1:n.113-3107G>A
ENST00000649235.1:c.265G>A	ENSP00000497388.1:p.Gly89Ser
ENST00000649842.1:c.113-1804G>A	ENSP00000497531.1:n.113-1804G>A
ENST00000265968.7:c.265G>A	ENSP00000265968.3:p.Gly89Ser
ENST00000533783.1:c.265G>A	ENSP00000431813.1:p.Gly89Ser
NM_003476.4:c.265G>A	NP_003467.1:p.Gly89Ser
XM_024448698.1:c.113-1804G>A	XP_024304466.1:n.113-1804G>A
NM_001369404.1:c.113-1804G>A	NP_001356333.1:n.113-1804G>A
NM_003476.5:c.265G>A MANE Select	NP_003467.1:p.Gly89Ser