Canonical Allele Identifier: CA378077294

Gene: COL17A1

Linked Data

• MyVariant Identifiers: chr10:g.105824246G>A (hg19) ; chr10:g.104064488G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104064488G>A , CM000672.2:g.104064488G>A	GRCh38
NC_000010.10:g.105824246G>A , CM000672.1:g.105824246G>A	GRCh37
NC_000010.9:g.105814236G>A	NCBI36
NG_007069.1:g.26393C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.716C>T	ENSP00000358748.3:p.Thr239Ile
ENST00000648076.2:c.716C>T MANE Select	ENSP00000497653.1:p.Thr239Ile
ENST00000649118.1:n.831C>T
ENST00000650263.1:c.668C>T	ENSP00000497850.1:p.Thr223Ile
ENST00000353479.9:c.716C>T	ENSP00000340937.5:p.Thr239Ile
ENST00000369733.7:c.716C>T	ENSP00000358748.3:p.Thr239Ile
ENST00000393211.3:c.716C>T	ENSP00000376905.3:p.Thr239Ile
ENST00000488320.1:n.61C>T
NM_000494.3:c.716C>T	NP_000485.3:p.Thr239Ile
NM_000494.4:c.716C>T MANE Select	NP_000485.3:p.Thr239Ile