Canonical Allele Identifier: CA410499313

Gene: COL18A1 SLC19A1

Linked Data

• ClinVar Variation Id: 2099420
• ClinVar RCV Id: RCV003022988
• dbSNP Id: rs2037068111
• MyVariant Identifiers: chr21:g.46924447C>G (hg19) ; chr21:g.45504533C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504533C>G , CM000683.2:g.45504533C>G	GRCh38
NC_000021.8:g.46924447C>G , CM000683.1:g.46924447C>G	GRCh37
NC_000021.7:g.45748875C>G	NCBI36
NG_011903.1:g.104342C>G
NG_028278.2:g.63611G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3385C>G (COL18A1)	ENSP00000347665.5:p.Pro1129Ala
ENST00000651438.1:c.2845C>G (COL18A1) MANE Select	ENSP00000498485.1:p.Pro949Ala
ENST00000342220.9:c.886C>G (COL18A1)	ENSP00000339118.5:p.Pro296Ala
ENST00000355480.9:c.3385C>G (COL18A1)	ENSP00000347665.5:p.Pro1129Ala
ENST00000359759.8:c.4090C>G (COL18A1)	ENSP00000352798.4:p.Pro1364Ala
ENST00000400337.6:c.2845C>G (COL18A1)	ENSP00000383191.2:p.Pro949Ala
ENST00000417954.5:c.498-5921G>C (SLC19A1)
ENST00000567670.5:c.1294-5921G>C (SLC19A1)	ENSP00000457278.1:n.1294-5921G>C
XM_011529707.1:c.1585-1564G>C (SLC19A1)	XP_011528009.1:n.1585-1564G>C
XM_017028445.2:c.1585-1564G>C (SLC19A1)	XP_016883934.1:n.1585-1564G>C
NM_001379500.1:c.2845C>G (COL18A1) MANE Select	NP_001366429.1:p.Pro949Ala