Canonical Allele Identifier: CA410496845

Gene: COL18A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45490835G>A , CM000683.2:g.45490835G>A	GRCh38
NC_000021.8:g.46910749G>A , CM000683.1:g.46910749G>A	GRCh37
NC_000021.7:g.45735177G>A	NCBI36
NG_011903.1:g.90653G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001379500.1:c.2032-1G>A MANE Select	NP_001366429.1:n.2032-1G>A
ENST00000651438.1:c.2032-1G>A MANE Select	ENSP00000498485.1:n.2032-1G>A
NM_030582.3:c.2572-1G>A	NP_085059.2:n.2572-1G>A
NM_030582.4:c.2572-1G>A	NP_085059.2:n.2572-1G>A
NM_130444.2:c.3277-1G>A	NP_569711.2:n.3277-1G>A
NM_130444.3:c.3277-1G>A	NP_569711.2:n.3277-1G>A
NM_130445.3:c.2032-1G>A	NP_569712.2:n.2032-1G>A
NM_130445.4:c.2032-1G>A	NP_569712.2:n.2032-1G>A
ENST00000342220.9:c.73-1G>A	ENSP00000339118.5:n.73-1G>A
ENST00000355480.10:c.2572-1G>A	ENSP00000347665.5:n.2572-1G>A
ENST00000355480.9:c.2572-1G>A	ENSP00000347665.5:n.2572-1G>A
ENST00000359759.8:c.3277-1G>A	ENSP00000352798.4:n.3277-1G>A
ENST00000400337.6:c.2032-1G>A	ENSP00000383191.2:n.2032-1G>A