Canonical Allele Identifier: CA378065209

Gene: COL17A1

Linked Data

• MyVariant Identifiers: chr10:g.105793859T>A (hg19) ; chr10:g.104034101T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034101T>A , CM000672.2:g.104034101T>A	GRCh38
NC_000010.10:g.105793859T>A , CM000672.1:g.105793859T>A	GRCh37
NC_000010.9:g.105783849T>A	NCBI36
NG_007069.1:g.56780A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3754A>T	ENSP00000358748.3:p.Arg1252Trp
ENST00000647647.1:c.30A>T
ENST00000648076.2:c.4000A>T MANE Select	ENSP00000497653.1:p.Arg1334Trp
ENST00000353479.9:c.4000A>T	ENSP00000340937.5:p.Arg1334Trp
ENST00000369733.7:c.3754A>T	ENSP00000358748.3:p.Arg1252Trp
NM_000494.3:c.4000A>T	NP_000485.3:p.Arg1334Trp
NM_000494.4:c.4000A>T MANE Select	NP_000485.3:p.Arg1334Trp