Canonical Allele Identifier: CA410499693

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505372G>T , CM000683.2:g.45505372G>T	GRCh38
NC_000021.8:g.46925286G>T , CM000683.1:g.46925286G>T	GRCh37
NC_000021.7:g.45749714G>T	NCBI36
NG_011903.1:g.105181G>T
NG_028278.2:g.62772C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001379500.1:c.3028G>T (COL18A1) MANE Select	NP_001366429.1:p.Gly1010Cys
ENST00000651438.1:c.3028G>T (COL18A1) MANE Select	ENSP00000498485.1:p.Gly1010Cys
NM_030582.3:c.3559G>T (COL18A1)	NP_085059.2:p.Gly1187Cys
NM_030582.4:c.3559G>T (COL18A1)	NP_085059.2:p.Gly1187Cys
NM_130444.2:c.4264G>T (COL18A1)	NP_569711.2:p.Gly1422Cys
NM_130444.3:c.4264G>T (COL18A1)	NP_569711.2:p.Gly1422Cys
NM_130445.3:c.3019G>T (COL18A1)	NP_569712.2:p.Gly1007Cys
NM_130445.4:c.3019G>T (COL18A1)	NP_569712.2:p.Gly1007Cys
ENST00000342220.9:c.1069G>T (COL18A1)	ENSP00000339118.5:p.Gly357Cys
ENST00000355480.10:c.3568G>T (COL18A1)	ENSP00000347665.5:p.Gly1190Cys
ENST00000355480.9:c.3568G>T (COL18A1)	ENSP00000347665.5:p.Gly1190Cys
ENST00000359759.8:c.4273G>T (COL18A1)	ENSP00000352798.4:p.Gly1425Cys
ENST00000400337.6:c.3028G>T (COL18A1)	ENSP00000383191.2:p.Gly1010Cys
ENST00000417954.5:c.498-6760C>A (SLC19A1)
ENST00000423214.1:c.15G>T (COL18A1)
ENST00000567670.5:c.1294-6760C>A (SLC19A1)	ENSP00000457278.1:n.1294-6760C>A
XM_011529707.1:c.1585-2403C>A (SLC19A1)	XP_011528009.1:n.1585-2403C>A
XM_017028445.2:c.1585-2403C>A (SLC19A1)	XP_016883934.1:n.1585-2403C>A