Canonical Allele Identifier: CA410501858

Gene: COL18A1 SLC19A1

Linked Data

• MyVariant Identifiers: chr21:g.46931029A>T (hg19) ; chr21:g.45511115A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45511115A>T , CM000683.2:g.45511115A>T	GRCh38
NC_000021.8:g.46931029A>T , CM000683.1:g.46931029A>T	GRCh37
NC_000021.7:g.45755457A>T	NCBI36
NG_011903.1:g.110924A>T
NG_028278.2:g.57029T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.4238A>T (COL18A1)	ENSP00000347665.5:p.Glu1413Val
ENST00000651438.1:c.3698A>T (COL18A1) MANE Select	ENSP00000498485.1:p.Glu1233Val
ENST00000342220.9:c.1742A>T (COL18A1)	ENSP00000339118.5:p.Glu581Val
ENST00000355480.9:c.4238A>T (COL18A1)	ENSP00000347665.5:p.Glu1413Val
ENST00000359759.8:c.4943A>T (COL18A1)	ENSP00000352798.4:p.Glu1648Val
ENST00000400337.6:c.3698A>T (COL18A1)	ENSP00000383191.2:p.Glu1233Val
ENST00000417954.5:c.498-12503T>A (SLC19A1)
ENST00000423214.1:c.652A>T (COL18A1)
ENST00000473212.1:n.2024A>T (COL18A1)
ENST00000567670.5:c.1294-12503T>A (SLC19A1)	ENSP00000457278.1:n.1294-12503T>A
NM_030582.3:c.4229A>T (COL18A1)	NP_085059.2:p.Glu1410Val
NM_130444.2:c.4934A>T (COL18A1)	NP_569711.2:p.Glu1645Val
NM_130445.3:c.3689A>T (COL18A1)	NP_569712.2:p.Glu1230Val
XM_011529707.1:c.1585-8146T>A (SLC19A1)	XP_011528009.1:n.1585-8146T>A
XM_017028445.2:c.1585-8146T>A (SLC19A1)	XP_016883934.1:n.1585-8146T>A
NM_030582.4:c.4229A>T (COL18A1)	NP_085059.2:p.Glu1410Val
NM_130444.3:c.4934A>T (COL18A1)	NP_569711.2:p.Glu1645Val
NM_130445.4:c.3689A>T (COL18A1)	NP_569712.2:p.Glu1230Val
NM_001379500.1:c.3698A>T (COL18A1) MANE Select	NP_001366429.1:p.Glu1233Val