Canonical Allele Identifier: CA410502030

Gene: COL18A1 SLC19A1

Linked Data

• gnomAD v4: 21-45511201-A-G
• MyVariant Identifiers: chr21:g.46931115A>G (hg19) ; chr21:g.45511201A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45511201A>G , CM000683.2:g.45511201A>G	GRCh38
NC_000021.8:g.46931115A>G , CM000683.1:g.46931115A>G	GRCh37
NC_000021.7:g.45755543A>G	NCBI36
NG_011903.1:g.111010A>G
NG_028278.2:g.56943T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.4324A>G (COL18A1)	ENSP00000347665.5:p.Lys1442Glu
ENST00000651438.1:c.3784A>G (COL18A1) MANE Select	ENSP00000498485.1:p.Lys1262Glu
ENST00000342220.9:c.1828A>G (COL18A1)	ENSP00000339118.5:p.Lys610Glu
ENST00000355480.9:c.4324A>G (COL18A1)	ENSP00000347665.5:p.Lys1442Glu
ENST00000359759.8:c.5029A>G (COL18A1)	ENSP00000352798.4:p.Lys1677Glu
ENST00000400337.6:c.3784A>G (COL18A1)	ENSP00000383191.2:p.Lys1262Glu
ENST00000417954.5:c.498-12589T>C (SLC19A1)
ENST00000423214.1:c.738A>G (COL18A1)
ENST00000473212.1:n.2110A>G (COL18A1)
ENST00000567670.5:c.1294-12589T>C (SLC19A1)	ENSP00000457278.1:n.1294-12589T>C
NM_030582.3:c.4315A>G (COL18A1)	NP_085059.2:p.Lys1439Glu
NM_130444.2:c.5020A>G (COL18A1)	NP_569711.2:p.Lys1674Glu
NM_130445.3:c.3775A>G (COL18A1)	NP_569712.2:p.Lys1259Glu
XM_011529707.1:c.1585-8232T>C (SLC19A1)	XP_011528009.1:n.1585-8232T>C
XM_017028445.2:c.1585-8232T>C (SLC19A1)	XP_016883934.1:n.1585-8232T>C
NM_030582.4:c.4315A>G (COL18A1)	NP_085059.2:p.Lys1439Glu
NM_130444.3:c.5020A>G (COL18A1)	NP_569711.2:p.Lys1674Glu
NM_130445.4:c.3775A>G (COL18A1)	NP_569712.2:p.Lys1259Glu
NM_001379500.1:c.3784A>G (COL18A1) MANE Select	NP_001366429.1:p.Lys1262Glu