Canonical Allele Identifier: CA10068140

Gene: COL18A1 SLC19A1

Linked Data

• ClinVar Variation Id: 2003256
• ClinVar RCV Id: RCV002825195
• dbSNP Id: rs754620860
• ExAC: 21:46932229 C / A
• gnomAD v2: 21-46932229-C-A
• gnomAD v3: 21-45512315-C-A
• gnomAD v4: 21-45512315-C-A
• MyVariant Identifiers: chr21:g.46932229C>A (hg19) ; chr21:g.45512315C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45512315C>A , CM000683.2:g.45512315C>A	GRCh38
NC_000021.8:g.46932229C>A , CM000683.1:g.46932229C>A	GRCh37
NC_000021.7:g.45756657C>A	NCBI36
NG_011903.1:g.112124C>A
NG_028278.2:g.55829G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.4477C>A (COL18A1)	ENSP00000347665.5:p.Leu1493Ile
ENST00000651438.1:c.3937C>A (COL18A1) MANE Select	ENSP00000498485.1:p.Leu1313Ile
ENST00000342220.9:c.1981C>A (COL18A1)	ENSP00000339118.5:p.Leu661Ile
ENST00000355480.9:c.4477C>A (COL18A1)	ENSP00000347665.5:p.Leu1493Ile
ENST00000359759.8:c.5182C>A (COL18A1)	ENSP00000352798.4:p.Leu1728Ile
ENST00000400337.6:c.3937C>A (COL18A1)	ENSP00000383191.2:p.Leu1313Ile
ENST00000417954.5:c.497+13502G>T (SLC19A1)
ENST00000473212.1:n.2263C>A (COL18A1)
ENST00000567670.5:c.1293+13502G>T (SLC19A1)	ENSP00000457278.1:n.1293+13502G>T
NM_030582.3:c.4468C>A (COL18A1)	NP_085059.2:p.Leu1490Ile
NM_130444.2:c.5173C>A (COL18A1)	NP_569711.2:p.Leu1725Ile
NM_130445.3:c.3928C>A (COL18A1)	NP_569712.2:p.Leu1310Ile
XM_011529707.1:c.1585-9346G>T (SLC19A1)	XP_011528009.1:n.1585-9346G>T
XM_017028445.2:c.1585-9346G>T (SLC19A1)	XP_016883934.1:n.1585-9346G>T
NM_030582.4:c.4468C>A (COL18A1)	NP_085059.2:p.Leu1490Ile
NM_130444.3:c.5173C>A (COL18A1)	NP_569711.2:p.Leu1725Ile
NM_130445.4:c.3928C>A (COL18A1)	NP_569712.2:p.Leu1310Ile
NM_001379500.1:c.3937C>A (COL18A1) MANE Select	NP_001366429.1:p.Leu1313Ile