Canonical Allele Identifier: CA3011741

Gene: CCSER1

Linked Data

• ClinVar Variation Id: 780487
• ClinVar RCV Id: RCV000961558
• dbSNP Id: rs76504638
• ExAC: 4:92007129 T / C
• gnomAD v2: 4-92007129-T-C
• gnomAD v3: 4-91085978-T-C
• gnomAD v4: 4-91085978-T-C
• MyVariant Identifiers: chr4:g.92007129T>C (hg19) ; chr4:g.91085978T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.91085978T>C , CM000666.2:g.91085978T>C	GRCh38
NC_000004.11:g.92007129T>C , CM000666.1:g.92007129T>C	GRCh37
NC_000004.10:g.92226152T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509176.6:c.2201T>C MANE Select	ENSP00000425040.1:p.Val734Ala
ENST00000649522.1:c.29T>C	ENSP00000497818.1:p.Val10Ala
ENST00000509109.5:c.*460T>C	ENSP00000421693.1:n.*460T>C
ENST00000509176.5:c.2201T>C	ENSP00000425040.1:p.Val734Ala
NM_001145065.1:c.2201T>C	NP_001138537.1:p.Val734Ala
XM_011531936.1:c.2297T>C	XP_011530238.1:p.Val766Ala
XM_011531937.1:c.2297T>C	XP_011530239.1:p.Val766Ala
XM_011531938.1:c.2297T>C	XP_011530240.1:p.Val766Ala
XM_011531939.1:c.2297T>C	XP_011530241.1:p.Val766Ala
XM_011531940.1:c.2219T>C	XP_011530242.1:p.Val740Ala
XM_011531941.1:c.2297T>C	XP_011530243.1:p.Val766Ala
XM_011531942.1:c.2297T>C	XP_011530244.1:p.Val766Ala
XM_011531943.1:c.2297T>C	XP_011530245.1:p.Val766Ala
XM_011531944.1:c.2297T>C	XP_011530246.1:p.Val766Ala
XM_011531947.1:c.*64T>C	XP_011530249.1:n.*64T>C
XM_011531951.1:c.*67T>C	XP_011530253.1:n.*67T>C
XR_938731.1:n.3377T>C
XR_938732.1:n.2921T>C
XM_011531937.2:c.2297T>C	XP_011530239.1:p.Val766Ala
XM_011531938.2:c.2297T>C	XP_011530240.1:p.Val766Ala
XM_011531939.2:c.2297T>C	XP_011530241.1:p.Val766Ala
XM_011531941.2:c.2297T>C	XP_011530243.1:p.Val766Ala
XM_011531942.2:c.2297T>C	XP_011530244.1:p.Val766Ala
XM_011531943.2:c.2297T>C	XP_011530245.1:p.Val766Ala
XM_011531947.2:c.*64T>C	XP_011530249.1:n.*64T>C
XM_017008194.1:c.2297T>C	XP_016863683.1:p.Val766Ala
XM_017008195.1:c.2297T>C	XP_016863684.1:p.Val766Ala
NM_001145065.2:c.2201T>C MANE Select	NP_001138537.1:p.Val734Ala