Canonical Allele Identifier: CA5677804
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 879944
dbSNP Id: rs372244733

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034313A>G , CM000672.2:g.104034313A>G GRCh38
NC_000010.10:g.105794071A>G , CM000672.1:g.105794071A>G GRCh37
NC_000010.9:g.105784061A>G NCBI36
NG_007069.1:g.56568T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3542T>C ENSP00000358748.3:p.Ile1181Thr
ENST00000648076.2:c.3788T>C MANE Select ENSP00000497653.1:p.Ile1263Thr
ENST00000353479.9:c.3788T>C ENSP00000340937.5:p.Ile1263Thr
ENST00000369733.7:c.3542T>C ENSP00000358748.3:p.Ile1181Thr
NM_000494.3:c.3788T>C NP_000485.3:p.Ile1263Thr
NM_000494.4:c.3788T>C MANE Select NP_000485.3:p.Ile1263Thr