Canonical Allele Identifier: CA10067852

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45509422C>T , CM000683.2:g.45509422C>T	GRCh38
NC_000021.8:g.46929336C>T , CM000683.1:g.46929336C>T	GRCh37
NC_000021.7:g.45753764C>T	NCBI36
NG_011903.1:g.109231C>T
NG_028278.2:g.58722G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001379500.1:c.3316C>T (COL18A1) MANE Select	NP_001366429.1:p.Arg1106Trp
ENST00000651438.1:c.3316C>T (COL18A1) MANE Select	ENSP00000498485.1:p.Arg1106Trp
NM_030582.3:c.3847C>T (COL18A1)	NP_085059.2:p.Arg1283Trp
NM_030582.4:c.3847C>T (COL18A1)	NP_085059.2:p.Arg1283Trp
NM_130444.2:c.4552C>T (COL18A1)	NP_569711.2:p.Arg1518Trp
NM_130444.3:c.4552C>T (COL18A1)	NP_569711.2:p.Arg1518Trp
NM_130445.3:c.3307C>T (COL18A1)	NP_569712.2:p.Arg1103Trp
NM_130445.4:c.3307C>T (COL18A1)	NP_569712.2:p.Arg1103Trp
ENST00000342220.9:c.1360C>T (COL18A1)	ENSP00000339118.5:p.Arg454Trp
ENST00000355480.10:c.3856C>T (COL18A1)	ENSP00000347665.5:p.Arg1286Trp
ENST00000355480.9:c.3856C>T (COL18A1)	ENSP00000347665.5:p.Arg1286Trp
ENST00000359759.8:c.4561C>T (COL18A1)	ENSP00000352798.4:p.Arg1521Trp
ENST00000400337.6:c.3316C>T (COL18A1)	ENSP00000383191.2:p.Arg1106Trp
ENST00000417954.5:c.498-10810G>A (SLC19A1)
ENST00000423214.1:c.270C>T (COL18A1)
ENST00000473212.1:n.1642C>T (COL18A1)
ENST00000567670.5:c.1294-10810G>A (SLC19A1)	ENSP00000457278.1:n.1294-10810G>A
XM_011529707.1:c.1585-6453G>A (SLC19A1)	XP_011528009.1:n.1585-6453G>A
XM_017028445.2:c.1585-6453G>A (SLC19A1)	XP_016883934.1:n.1585-6453G>A