Canonical Allele Identifier: CA512686615

Gene: COL18A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45492728G>A , CM000683.2:g.45492728G>A	GRCh38
NC_000021.8:g.46912642G>A , CM000683.1:g.46912642G>A	GRCh37
NC_000021.7:g.45737070G>A	NCBI36
NG_011903.1:g.92546G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001379500.1:c.2214+15G>A MANE Select	NP_001366429.1:n.2214+15G>A
ENST00000651438.1:c.2214+15G>A MANE Select	ENSP00000498485.1:n.2214+15G>A
NM_030582.3:c.2754+15G>A	NP_085059.2:n.2754+15G>A
NM_030582.4:c.2754+15G>A	NP_085059.2:n.2754+15G>A
NM_130444.2:c.3459+15G>A	NP_569711.2:n.3459+15G>A
NM_130444.3:c.3459+15G>A	NP_569711.2:n.3459+15G>A
NM_130445.3:c.2214+15G>A	NP_569712.2:n.2214+15G>A
NM_130445.4:c.2214+15G>A	NP_569712.2:n.2214+15G>A
ENST00000342220.9:c.255+15G>A	ENSP00000339118.5:n.255+15G>A
ENST00000355480.10:c.2754+15G>A	ENSP00000347665.5:n.2754+15G>A
ENST00000355480.9:c.2754+15G>A	ENSP00000347665.5:n.2754+15G>A
ENST00000359759.8:c.3459+15G>A	ENSP00000352798.4:n.3459+15G>A
ENST00000400337.6:c.2214+15G>A	ENSP00000383191.2:n.2214+15G>A