Canonical Allele Identifier: CA14966393

Gene: CASTOR1

Linked Data

• dbSNP Id: rs1043099
• gnomAD v2: 22-30681257-C-G
• gnomAD v3: 22-30285268-C-G
• gnomAD v4: 22-30285268-C-G
• MyVariant Identifiers: chr22:g.30681257C>G (hg19) ; chr22:g.30285268C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.30285268C>G , CM000684.2:g.30285268C>G	GRCh38
NC_000022.10:g.30681257C>G , CM000684.1:g.30681257C>G	GRCh37
NC_000022.9:g.29011257C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000407689.8:c.*352G>C MANE Select	ENSP00000384183.4:n.*352G>C
ENST00000330168.9:c.1944G>C	ENSP00000331267.5:n.1944G>C
ENST00000404953.7:c.*352G>C	ENSP00000385868.3:n.*352G>C
ENST00000407689.7:c.*352G>C	ENSP00000384183.3:n.*352G>C
ENST00000418047.5:c.1760G>C	ENSP00000400319.1:n.1760G>C
ENST00000434291.5:c.1795G>C	ENSP00000401535.1:n.1795G>C
ENST00000434987.5:c.1781G>C	ENSP00000415854.1:n.1781G>C
ENST00000447976.1:c.1830G>C	ENSP00000406516.1:n.1830G>C
ENST00000459785.1:n.251G>C
NM_001037666.2:c.*352G>C	NP_001032755.1:n.*352G>C
NM_001037666.3:c.*352G>C MANE Select	NP_001032755.1:n.*352G>C