Canonical Allele Identifier: CA410502049

Gene: COL18A1 SLC19A1

Linked Data

• gnomAD v4: 21-45511210-C-A
• MyVariant Identifiers: chr21:g.46931124C>A (hg19) ; chr21:g.45511210C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45511210C>A , CM000683.2:g.45511210C>A	GRCh38
NC_000021.8:g.46931124C>A , CM000683.1:g.46931124C>A	GRCh37
NC_000021.7:g.45755552C>A	NCBI36
NG_011903.1:g.111019C>A
NG_028278.2:g.56934G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.4333C>A (COL18A1)	ENSP00000347665.5:p.Leu1445Met
ENST00000651438.1:c.3793C>A (COL18A1) MANE Select	ENSP00000498485.1:p.Leu1265Met
ENST00000342220.9:c.1837C>A (COL18A1)	ENSP00000339118.5:p.Leu613Met
ENST00000355480.9:c.4333C>A (COL18A1)	ENSP00000347665.5:p.Leu1445Met
ENST00000359759.8:c.5038C>A (COL18A1)	ENSP00000352798.4:p.Leu1680Met
ENST00000400337.6:c.3793C>A (COL18A1)	ENSP00000383191.2:p.Leu1265Met
ENST00000417954.5:c.498-12598G>T (SLC19A1)
ENST00000423214.1:c.747C>A (COL18A1)
ENST00000473212.1:n.2119C>A (COL18A1)
ENST00000567670.5:c.1294-12598G>T (SLC19A1)	ENSP00000457278.1:n.1294-12598G>T
NM_030582.3:c.4324C>A (COL18A1)	NP_085059.2:p.Leu1442Met
NM_130444.2:c.5029C>A (COL18A1)	NP_569711.2:p.Leu1677Met
NM_130445.3:c.3784C>A (COL18A1)	NP_569712.2:p.Leu1262Met
XM_011529707.1:c.1585-8241G>T (SLC19A1)	XP_011528009.1:n.1585-8241G>T
XM_017028445.2:c.1585-8241G>T (SLC19A1)	XP_016883934.1:n.1585-8241G>T
NM_030582.4:c.4324C>A (COL18A1)	NP_085059.2:p.Leu1442Met
NM_130444.3:c.5029C>A (COL18A1)	NP_569711.2:p.Leu1677Met
NM_130445.4:c.3784C>A (COL18A1)	NP_569712.2:p.Leu1262Met
NM_001379500.1:c.3793C>A (COL18A1) MANE Select	NP_001366429.1:p.Leu1265Met