Canonical Allele Identifier: CA410501847

Gene: COL18A1 SLC19A1

Linked Data

• dbSNP Id: rs1448198345
• gnomAD v2: 21-46931025-G-A
• gnomAD v4: 21-45511111-G-A
• MyVariant Identifiers: chr21:g.46931025G>A (hg19) ; chr21:g.45511111G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45511111G>A , CM000683.2:g.45511111G>A	GRCh38
NC_000021.8:g.46931025G>A , CM000683.1:g.46931025G>A	GRCh37
NC_000021.7:g.45755453G>A	NCBI36
NG_011903.1:g.110920G>A
NG_028278.2:g.57033C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.4234G>A (COL18A1)	ENSP00000347665.5:p.Asp1412Asn
ENST00000651438.1:c.3694G>A (COL18A1) MANE Select	ENSP00000498485.1:p.Asp1232Asn
ENST00000342220.9:c.1738G>A (COL18A1)	ENSP00000339118.5:p.Asp580Asn
ENST00000355480.9:c.4234G>A (COL18A1)	ENSP00000347665.5:p.Asp1412Asn
ENST00000359759.8:c.4939G>A (COL18A1)	ENSP00000352798.4:p.Asp1647Asn
ENST00000400337.6:c.3694G>A (COL18A1)	ENSP00000383191.2:p.Asp1232Asn
ENST00000417954.5:c.498-12499C>T (SLC19A1)
ENST00000423214.1:c.648G>A (COL18A1)
ENST00000473212.1:n.2020G>A (COL18A1)
ENST00000567670.5:c.1294-12499C>T (SLC19A1)	ENSP00000457278.1:n.1294-12499C>T
NM_030582.3:c.4225G>A (COL18A1)	NP_085059.2:p.Asp1409Asn
NM_130444.2:c.4930G>A (COL18A1)	NP_569711.2:p.Asp1644Asn
NM_130445.3:c.3685G>A (COL18A1)	NP_569712.2:p.Asp1229Asn
XM_011529707.1:c.1585-8142C>T (SLC19A1)	XP_011528009.1:n.1585-8142C>T
XM_017028445.2:c.1585-8142C>T (SLC19A1)	XP_016883934.1:n.1585-8142C>T
NM_030582.4:c.4225G>A (COL18A1)	NP_085059.2:p.Asp1409Asn
NM_130444.3:c.4930G>A (COL18A1)	NP_569711.2:p.Asp1644Asn
NM_130445.4:c.3685G>A (COL18A1)	NP_569712.2:p.Asp1229Asn
NM_001379500.1:c.3694G>A (COL18A1) MANE Select	NP_001366429.1:p.Asp1232Asn