Canonical Allele Identifier: CA258055
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17658
dbSNP Id: rs121912774
COSMIC: COSM914489

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104072062G>A , CM000672.2:g.104072062G>A GRCh38
NC_000010.10:g.105831820G>A , CM000672.1:g.105831820G>A GRCh37
NC_000010.9:g.105821810G>A NCBI36
NG_007069.1:g.18819C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.433C>T ENSP00000358748.3:p.Arg145Ter
ENST00000648076.2:c.433C>T MANE Select ENSP00000497653.1:p.Arg145Ter
ENST00000649118.1:n.548C>T
ENST00000650263.1:c.385C>T ENSP00000497850.1:p.Arg129Ter
ENST00000353479.9:c.433C>T ENSP00000340937.5:p.Arg145Ter
ENST00000369733.7:c.433C>T ENSP00000358748.3:p.Arg145Ter
ENST00000393211.3:c.433C>T ENSP00000376905.3:p.Arg145Ter
ENST00000483876.1:n.483C>T
NM_000494.3:c.433C>T NP_000485.3:p.Arg145Ter
NM_000494.4:c.433C>T MANE Select NP_000485.3:p.Arg145Ter