Canonical Allele Identifier: CA410499355

Gene: COL18A1 SLC19A1

Linked Data

• ClinVar Variation Id: 1494841
• ClinVar RCV Id: RCV001989620
• dbSNP Id: rs2146075478
• gnomAD v4: 21-45504554-C-T
• MyVariant Identifiers: chr21:g.46924468C>T (hg19) ; chr21:g.45504554C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504554C>T , CM000683.2:g.45504554C>T	GRCh38
NC_000021.8:g.46924468C>T , CM000683.1:g.46924468C>T	GRCh37
NC_000021.7:g.45748896C>T	NCBI36
NG_011903.1:g.104363C>T
NG_028278.2:g.63590G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3406C>T (COL18A1)	ENSP00000347665.5:p.Pro1136Ser
ENST00000651438.1:c.2866C>T (COL18A1) MANE Select	ENSP00000498485.1:p.Pro956Ser
ENST00000342220.9:c.907C>T (COL18A1)	ENSP00000339118.5:p.Pro303Ser
ENST00000355480.9:c.3406C>T (COL18A1)	ENSP00000347665.5:p.Pro1136Ser
ENST00000359759.8:c.4111C>T (COL18A1)	ENSP00000352798.4:p.Pro1371Ser
ENST00000400337.6:c.2866C>T (COL18A1)	ENSP00000383191.2:p.Pro956Ser
ENST00000417954.5:c.498-5942G>A (SLC19A1)
ENST00000567670.5:c.1294-5942G>A (SLC19A1)	ENSP00000457278.1:n.1294-5942G>A
NM_030582.3:c.3397C>T (COL18A1)	NP_085059.2:p.Pro1133Ser
NM_130444.2:c.4102C>T (COL18A1)	NP_569711.2:p.Pro1368Ser
NM_130445.3:c.2857C>T (COL18A1)	NP_569712.2:p.Pro953Ser
XM_011529707.1:c.1585-1585G>A (SLC19A1)	XP_011528009.1:n.1585-1585G>A
XM_017028445.2:c.1585-1585G>A (SLC19A1)	XP_016883934.1:n.1585-1585G>A
NM_030582.4:c.3397C>T (COL18A1)	NP_085059.2:p.Pro1133Ser
NM_130444.3:c.4102C>T (COL18A1)	NP_569711.2:p.Pro1368Ser
NM_130445.4:c.2857C>T (COL18A1)	NP_569712.2:p.Pro953Ser
NM_001379500.1:c.2866C>T (COL18A1) MANE Select	NP_001366429.1:p.Pro956Ser