Canonical Allele Identifier: CA10067799

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45507585C>T , CM000683.2:g.45507585C>T	GRCh38
NC_000021.8:g.46927499C>T , CM000683.1:g.46927499C>T	GRCh37
NC_000021.7:g.45751927C>T	NCBI36
NG_011903.1:g.107394C>T
NG_028278.2:g.60559G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001379500.1:c.3241C>T (COL18A1) MANE Select	NP_001366429.1:p.Arg1081Ter
ENST00000651438.1:c.3241C>T (COL18A1) MANE Select	ENSP00000498485.1:p.Arg1081Ter
NM_030582.3:c.3772C>T (COL18A1)	NP_085059.2:p.Arg1258Ter
NM_030582.4:c.3772C>T (COL18A1)	NP_085059.2:p.Arg1258Ter
NM_130444.2:c.4477C>T (COL18A1)	NP_569711.2:p.Arg1493Ter
NM_130444.3:c.4477C>T (COL18A1)	NP_569711.2:p.Arg1493Ter
NM_130445.3:c.3232C>T (COL18A1)	NP_569712.2:p.Arg1078Ter
NM_130445.4:c.3232C>T (COL18A1)	NP_569712.2:p.Arg1078Ter
ENST00000342220.9:c.1285C>T (COL18A1)	ENSP00000339118.5:p.Arg429Ter
ENST00000355480.10:c.3781C>T (COL18A1)	ENSP00000347665.5:p.Arg1261Ter
ENST00000355480.9:c.3781C>T (COL18A1)	ENSP00000347665.5:p.Arg1261Ter
ENST00000359759.8:c.4486C>T (COL18A1)	ENSP00000352798.4:p.Arg1496Ter
ENST00000400337.6:c.3241C>T (COL18A1)	ENSP00000383191.2:p.Arg1081Ter
ENST00000417954.5:c.498-8973G>A (SLC19A1)
ENST00000423214.1:c.203+1619C>T (COL18A1)
ENST00000473212.1:n.1567C>T (COL18A1)
ENST00000567670.5:c.1294-8973G>A (SLC19A1)	ENSP00000457278.1:n.1294-8973G>A
XM_011529707.1:c.1585-4616G>A (SLC19A1)	XP_011528009.1:n.1585-4616G>A
XM_017028445.2:c.1585-4616G>A (SLC19A1)	XP_016883934.1:n.1585-4616G>A