Canonical Allele Identifier: CA410502038

Gene: COL18A1 SLC19A1

Linked Data

• gnomAD v4: 21-45511204-G-T
• MyVariant Identifiers: chr21:g.46931118G>T (hg19) ; chr21:g.45511204G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45511204G>T , CM000683.2:g.45511204G>T	GRCh38
NC_000021.8:g.46931118G>T , CM000683.1:g.46931118G>T	GRCh37
NC_000021.7:g.45755546G>T	NCBI36
NG_011903.1:g.111013G>T
NG_028278.2:g.56940C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.4327G>T (COL18A1)	ENSP00000347665.5:p.Asp1443Tyr
ENST00000651438.1:c.3787G>T (COL18A1) MANE Select	ENSP00000498485.1:p.Asp1263Tyr
ENST00000342220.9:c.1831G>T (COL18A1)	ENSP00000339118.5:p.Asp611Tyr
ENST00000355480.9:c.4327G>T (COL18A1)	ENSP00000347665.5:p.Asp1443Tyr
ENST00000359759.8:c.5032G>T (COL18A1)	ENSP00000352798.4:p.Asp1678Tyr
ENST00000400337.6:c.3787G>T (COL18A1)	ENSP00000383191.2:p.Asp1263Tyr
ENST00000417954.5:c.498-12592C>A (SLC19A1)
ENST00000423214.1:c.741G>T (COL18A1)
ENST00000473212.1:n.2113G>T (COL18A1)
ENST00000567670.5:c.1294-12592C>A (SLC19A1)	ENSP00000457278.1:n.1294-12592C>A
NM_030582.3:c.4318G>T (COL18A1)	NP_085059.2:p.Asp1440Tyr
NM_130444.2:c.5023G>T (COL18A1)	NP_569711.2:p.Asp1675Tyr
NM_130445.3:c.3778G>T (COL18A1)	NP_569712.2:p.Asp1260Tyr
XM_011529707.1:c.1585-8235C>A (SLC19A1)	XP_011528009.1:n.1585-8235C>A
XM_017028445.2:c.1585-8235C>A (SLC19A1)	XP_016883934.1:n.1585-8235C>A
NM_030582.4:c.4318G>T (COL18A1)	NP_085059.2:p.Asp1440Tyr
NM_130444.3:c.5023G>T (COL18A1)	NP_569711.2:p.Asp1675Tyr
NM_130445.4:c.3778G>T (COL18A1)	NP_569712.2:p.Asp1260Tyr
NM_001379500.1:c.3787G>T (COL18A1) MANE Select	NP_001366429.1:p.Asp1263Tyr