Canonical Allele Identifier: CA378065827
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2278822
ClinVar RCV Id: RCV002827358
MyVariant Identifiers: chr10:g.105794063G>T (hg19) chr10:g.104034305G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034305G>T , CM000672.2:g.104034305G>T GRCh38
NC_000010.10:g.105794063G>T , CM000672.1:g.105794063G>T GRCh37
NC_000010.9:g.105784053G>T NCBI36
NG_007069.1:g.56576C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3550C>A ENSP00000358748.3:p.Pro1184Thr
ENST00000648076.2:c.3796C>A MANE Select ENSP00000497653.1:p.Pro1266Thr
ENST00000353479.9:c.3796C>A ENSP00000340937.5:p.Pro1266Thr
ENST00000369733.7:c.3550C>A ENSP00000358748.3:p.Pro1184Thr
NM_000494.3:c.3796C>A NP_000485.3:p.Pro1266Thr
NM_000494.4:c.3796C>A MANE Select NP_000485.3:p.Pro1266Thr
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