Canonical Allele Identifier: CA410502060

Gene: COL18A1 SLC19A1

Linked Data

• gnomAD v4: 21-45511215-G-T
• MyVariant Identifiers: chr21:g.46931129G>T (hg19) ; chr21:g.45511215G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45511215G>T , CM000683.2:g.45511215G>T	GRCh38
NC_000021.8:g.46931129G>T , CM000683.1:g.46931129G>T	GRCh37
NC_000021.7:g.45755557G>T	NCBI36
NG_011903.1:g.111024G>T
NG_028278.2:g.56929C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.4338G>T (COL18A1)	ENSP00000347665.5:p.Arg1446Ser
ENST00000651438.1:c.3798G>T (COL18A1) MANE Select	ENSP00000498485.1:p.Arg1266Ser
ENST00000342220.9:c.1842G>T (COL18A1)	ENSP00000339118.5:p.Arg614Ser
ENST00000355480.9:c.4338G>T (COL18A1)	ENSP00000347665.5:p.Arg1446Ser
ENST00000359759.8:c.5043G>T (COL18A1)	ENSP00000352798.4:p.Arg1681Ser
ENST00000400337.6:c.3798G>T (COL18A1)	ENSP00000383191.2:p.Arg1266Ser
ENST00000417954.5:c.498-12603C>A (SLC19A1)
ENST00000423214.1:c.752G>T (COL18A1)
ENST00000473212.1:n.2124G>T (COL18A1)
ENST00000567670.5:c.1294-12603C>A (SLC19A1)	ENSP00000457278.1:n.1294-12603C>A
NM_030582.3:c.4329G>T (COL18A1)	NP_085059.2:p.Arg1443Ser
NM_130444.2:c.5034G>T (COL18A1)	NP_569711.2:p.Arg1678Ser
NM_130445.3:c.3789G>T (COL18A1)	NP_569712.2:p.Arg1263Ser
XM_011529707.1:c.1585-8246C>A (SLC19A1)	XP_011528009.1:n.1585-8246C>A
XM_017028445.2:c.1585-8246C>A (SLC19A1)	XP_016883934.1:n.1585-8246C>A
NM_030582.4:c.4329G>T (COL18A1)	NP_085059.2:p.Arg1443Ser
NM_130444.3:c.5034G>T (COL18A1)	NP_569711.2:p.Arg1678Ser
NM_130445.4:c.3789G>T (COL18A1)	NP_569712.2:p.Arg1263Ser
NM_001379500.1:c.3798G>T (COL18A1) MANE Select	NP_001366429.1:p.Arg1266Ser