Canonical Allele Identifier: CA471344099

Gene: COL17A1

Linked Data

• MyVariant Identifiers: chr10:g.105797509T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104037751T>C , CM000672.2:g.104037751T>C	GRCh38
NC_000010.10:g.105797509T>C , CM000672.1:g.105797509T>C	GRCh37
NC_000010.9:g.105787499T>C	NCBI36
NG_007069.1:g.53130A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.2958A>G	ENSP00000358748.3:p.Leu986=
ENST00000648076.2:c.3093A>G MANE Select	ENSP00000497653.1:p.Leu1031=
ENST00000353479.9:c.3093A>G	ENSP00000340937.5:p.Leu1031=
ENST00000369733.7:c.2958A>G	ENSP00000358748.3:p.Leu986=
NM_000494.3:c.3093A>G	NP_000485.3:p.Leu1031=
NM_000494.4:c.3093A>G MANE Select	NP_000485.3:p.Leu1031=