Canonical Allele Identifier: CA378077231

Gene: COL17A1

Linked Data

• MyVariant Identifiers: chr10:g.105824229G>T (hg19) ; chr10:g.104064471G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104064471G>T , CM000672.2:g.104064471G>T	GRCh38
NC_000010.10:g.105824229G>T , CM000672.1:g.105824229G>T	GRCh37
NC_000010.9:g.105814219G>T	NCBI36
NG_007069.1:g.26410C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.733C>A	ENSP00000358748.3:p.Leu245Ile
ENST00000648076.2:c.733C>A MANE Select	ENSP00000497653.1:p.Leu245Ile
ENST00000649118.1:n.848C>A
ENST00000650263.1:c.685C>A	ENSP00000497850.1:p.Leu229Ile
ENST00000353479.9:c.733C>A	ENSP00000340937.5:p.Leu245Ile
ENST00000369733.7:c.733C>A	ENSP00000358748.3:p.Leu245Ile
ENST00000393211.3:c.733C>A	ENSP00000376905.3:p.Leu245Ile
ENST00000488320.1:n.78C>A
NM_000494.3:c.733C>A	NP_000485.3:p.Leu245Ile
NM_000494.4:c.733C>A MANE Select	NP_000485.3:p.Leu245Ile