Canonical Allele Identifier: CA10066585

Gene: COL18A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45487489C>G , CM000683.2:g.45487489C>G	GRCh38
NC_000021.8:g.46907403C>G , CM000683.1:g.46907403C>G	GRCh37
NC_000021.7:g.45731831C>G	NCBI36
NG_011903.1:g.87307C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001379500.1:c.1876C>G MANE Select	NP_001366429.1:p.Arg626Gly
ENST00000651438.1:c.1876C>G MANE Select	ENSP00000498485.1:p.Arg626Gly
NM_030582.3:c.2416C>G	NP_085059.2:p.Arg806Gly
NM_030582.4:c.2416C>G	NP_085059.2:p.Arg806Gly
NM_130444.2:c.3121C>G	NP_569711.2:p.Arg1041Gly
NM_130444.3:c.3121C>G	NP_569711.2:p.Arg1041Gly
NM_130445.3:c.1876C>G	NP_569712.2:p.Arg626Gly
NM_130445.4:c.1876C>G	NP_569712.2:p.Arg626Gly
ENST00000355480.10:c.2416C>G	ENSP00000347665.5:p.Arg806Gly
ENST00000355480.9:c.2416C>G	ENSP00000347665.5:p.Arg806Gly
ENST00000359759.8:c.3121C>G	ENSP00000352798.4:p.Arg1041Gly
ENST00000400337.6:c.1876C>G	ENSP00000383191.2:p.Arg626Gly