Canonical Allele Identifier: CA378065840
Gene: COL17A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034311C>G , CM000672.2:g.104034311C>G GRCh38
NC_000010.10:g.105794069C>G , CM000672.1:g.105794069C>G GRCh37
NC_000010.9:g.105784059C>G NCBI36
NG_007069.1:g.56570G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3544G>C ENSP00000358748.3:p.Val1182Leu
ENST00000648076.2:c.3790G>C MANE Select ENSP00000497653.1:p.Val1264Leu
ENST00000353479.9:c.3790G>C ENSP00000340937.5:p.Val1264Leu
ENST00000369733.7:c.3544G>C ENSP00000358748.3:p.Val1182Leu
NM_000494.3:c.3790G>C NP_000485.3:p.Val1264Leu
NM_000494.4:c.3790G>C MANE Select NP_000485.3:p.Val1264Leu