Canonical Allele Identifier: CA10650335

Gene: CANT1

Linked Data

• ClinVar Variation Id: 325688
• ClinVar RCV Id: RCV000329272
• dbSNP Id: rs886053522
• MyVariant Identifiers: chr17:g.76989082T>G (hg19) ; chr17:g.78993000T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78993000T>G , CM000679.2:g.78993000T>G	GRCh38
NC_000017.10:g.76989082T>G , CM000679.1:g.76989082T>G	GRCh37
NC_000017.9:g.74500677T>G	NCBI36
NG_016645.1:g.21818A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392446.10:c.*550A>C MANE Select	ENSP00000376241.4:n.*550A>C
ENST00000302345.6:c.*550A>C	ENSP00000307674.2:n.*550A>C
ENST00000392446.9:c.*550A>C	ENSP00000376241.4:n.*550A>C
ENST00000592228.1:c.648-239A>C	ENSP00000466743.1:n.648-239A>C
ENST00000620915.4:c.*550A>C	ENSP00000477798.1:n.*550A>C
NM_001159772.1:c.*550A>C	NP_001153244.1:n.*550A>C
NM_001159773.1:c.*550A>C	NP_001153245.1:n.*550A>C
NM_138793.3:c.*550A>C	NP_620148.1:n.*550A>C
XM_005257020.1:c.*550A>C	XP_005257077.1:n.*550A>C
XM_005257021.1:c.*550A>C	XP_005257078.1:n.*550A>C
XM_005257022.1:c.*550A>C	XP_005257079.1:n.*550A>C
XM_006721683.1:c.*550A>C	XP_006721746.1:n.*550A>C
XM_011524291.1:c.*550A>C	XP_011522593.1:n.*550A>C
XM_011524292.1:c.*550A>C	XP_011522594.1:n.*550A>C
XM_011524293.1:c.*550A>C	XP_011522595.1:n.*550A>C
XM_011524294.1:c.*550A>C	XP_011522596.1:n.*550A>C
XM_011524295.1:c.*550A>C	XP_011522597.1:n.*550A>C
XR_935009.1:n.2895T>G
XM_011524294.2:c.*550A>C	XP_011522596.1:n.*550A>C
XM_011524295.2:c.*550A>C	XP_011522597.1:n.*550A>C
XM_024450564.1:c.*550A>C	XP_024306332.1:n.*550A>C
XR_001752424.2:n.2200A>C
NM_001159773.2:c.*550A>C MANE Select	NP_001153245.1:n.*550A>C
NM_001159772.2:c.*550A>C	NP_001153244.1:n.*550A>C
NM_138793.4:c.*550A>C	NP_620148.1:n.*550A>C