Canonical Allele Identifier: CA10068050

Gene: COL18A1 SLC19A1

Linked Data

• ClinVar Variation Id: 1641219
• ClinVar RCV Id: RCV002134241
• dbSNP Id: rs747253925
• ExAC: 21:46931027 C / T
• gnomAD v2: 21-46931027-C-T
• gnomAD v3: 21-45511113-C-T
• gnomAD v4: 21-45511113-C-T
• MyVariant Identifiers: chr21:g.46931027C>T (hg19) ; chr21:g.45511113C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45511113C>T , CM000683.2:g.45511113C>T	GRCh38
NC_000021.8:g.46931027C>T , CM000683.1:g.46931027C>T	GRCh37
NC_000021.7:g.45755455C>T	NCBI36
NG_011903.1:g.110922C>T
NG_028278.2:g.57031G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.4236C>T (COL18A1)	ENSP00000347665.5:p.Asp1412=
ENST00000651438.1:c.3696C>T (COL18A1) MANE Select	ENSP00000498485.1:p.Asp1232=
ENST00000342220.9:c.1740C>T (COL18A1)	ENSP00000339118.5:p.Asp580=
ENST00000355480.9:c.4236C>T (COL18A1)	ENSP00000347665.5:p.Asp1412=
ENST00000359759.8:c.4941C>T (COL18A1)	ENSP00000352798.4:p.Asp1647=
ENST00000400337.6:c.3696C>T (COL18A1)	ENSP00000383191.2:p.Asp1232=
ENST00000417954.5:c.498-12501G>A (SLC19A1)
ENST00000423214.1:c.650C>T (COL18A1)
ENST00000473212.1:n.2022C>T (COL18A1)
ENST00000567670.5:c.1294-12501G>A (SLC19A1)	ENSP00000457278.1:n.1294-12501G>A
NM_030582.3:c.4227C>T (COL18A1)	NP_085059.2:p.Asp1409=
NM_130444.2:c.4932C>T (COL18A1)	NP_569711.2:p.Asp1644=
NM_130445.3:c.3687C>T (COL18A1)	NP_569712.2:p.Asp1229=
XM_011529707.1:c.1585-8144G>A (SLC19A1)	XP_011528009.1:n.1585-8144G>A
XM_017028445.2:c.1585-8144G>A (SLC19A1)	XP_016883934.1:n.1585-8144G>A
NM_030582.4:c.4227C>T (COL18A1)	NP_085059.2:p.Asp1409=
NM_130444.3:c.4932C>T (COL18A1)	NP_569711.2:p.Asp1644=
NM_130445.4:c.3687C>T (COL18A1)	NP_569712.2:p.Asp1229=
NM_001379500.1:c.3696C>T (COL18A1) MANE Select	NP_001366429.1:p.Asp1232=