Canonical Allele Identifier: CA471503331

Gene: COL17A1

Linked Data

• MyVariant Identifiers: chr10:g.105794067A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034309A>G , CM000672.2:g.104034309A>G	GRCh38
NC_000010.10:g.105794067A>G , CM000672.1:g.105794067A>G	GRCh37
NC_000010.9:g.105784057A>G	NCBI36
NG_007069.1:g.56572T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3546T>C	ENSP00000358748.3:p.Val1182=
ENST00000648076.2:c.3792T>C MANE Select	ENSP00000497653.1:p.Val1264=
ENST00000353479.9:c.3792T>C	ENSP00000340937.5:p.Val1264=
ENST00000369733.7:c.3546T>C	ENSP00000358748.3:p.Val1182=
NM_000494.3:c.3792T>C	NP_000485.3:p.Val1264=
NM_000494.4:c.3792T>C MANE Select	NP_000485.3:p.Val1264=