Canonical Allele Identifier: CA10065968

Gene: COL18A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45476407G>A , CM000683.2:g.45476407G>A	GRCh38
NC_000021.8:g.46896321G>A , CM000683.1:g.46896321G>A	GRCh37
NC_000021.7:g.45720749G>A	NCBI36
NG_011903.1:g.76225G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001379500.1:c.855G>A MANE Select	NP_001366429.1:p.Leu285=
ENST00000651438.1:c.855G>A MANE Select	ENSP00000498485.1:p.Leu285=
NM_030582.3:c.1395G>A	NP_085059.2:p.Leu465=
NM_030582.4:c.1395G>A	NP_085059.2:p.Leu465=
NM_130444.2:c.2100G>A	NP_569711.2:p.Leu700=
NM_130444.3:c.2100G>A	NP_569711.2:p.Leu700=
NM_130445.3:c.855G>A	NP_569712.2:p.Leu285=
NM_130445.4:c.855G>A	NP_569712.2:p.Leu285=
ENST00000355480.10:c.1395G>A	ENSP00000347665.5:p.Leu465=
ENST00000355480.9:c.1395G>A	ENSP00000347665.5:p.Leu465=
ENST00000359759.8:c.2100G>A	ENSP00000352798.4:p.Leu700=
ENST00000400337.6:c.855G>A	ENSP00000383191.2:p.Leu285=