Canonical Allele Identifier: CA10067578

Gene: COL18A1 SLC19A1

Linked Data

• ClinVar Variation Id: 1169754
• ClinVar RCV Id: RCV001521482
• dbSNP Id: rs369702868
• ExAC: 21:46925140 C / T
• gnomAD v2: 21-46925140-C-T
• gnomAD v3: 21-45505226-C-T
• gnomAD v4: 21-45505226-C-T
• MyVariant Identifiers: chr21:g.46925140C>T (hg19) ; chr21:g.46925140_46925149delinsTGGCCCCCCA (hg19) ; chr21:g.45505226C>T (hg38) ; chr21:g.45505226_45505235delinsTGGCCCCCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505226C>T , CM000683.2:g.45505226C>T	GRCh38
NC_000021.8:g.46925140C>T , CM000683.1:g.46925140C>T	GRCh37
NC_000021.7:g.45749568C>T	NCBI36
NG_011903.1:g.105035C>T
NG_028278.2:g.62918G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3501C>T (COL18A1)	ENSP00000347665.5:p.Pro1167=
ENST00000651438.1:c.2961C>T (COL18A1) MANE Select	ENSP00000498485.1:p.Pro987=
ENST00000342220.9:c.1002C>T (COL18A1)	ENSP00000339118.5:p.Pro334=
ENST00000355480.9:c.3501C>T (COL18A1)	ENSP00000347665.5:p.Pro1167=
ENST00000359759.8:c.4206C>T (COL18A1)	ENSP00000352798.4:p.Pro1402=
ENST00000400337.6:c.2961C>T (COL18A1)	ENSP00000383191.2:p.Pro987=
ENST00000417954.5:c.498-6614G>A (SLC19A1)
ENST00000567670.5:c.1294-6614G>A (SLC19A1)	ENSP00000457278.1:n.1294-6614G>A
NM_030582.3:c.3492C>T (COL18A1)	NP_085059.2:p.Pro1164=
NM_130444.2:c.4197C>T (COL18A1)	NP_569711.2:p.Pro1399=
NM_130445.3:c.2952C>T (COL18A1)	NP_569712.2:p.Pro984=
XM_011529707.1:c.1585-2257G>A (SLC19A1)	XP_011528009.1:n.1585-2257G>A
XM_017028445.2:c.1585-2257G>A (SLC19A1)	XP_016883934.1:n.1585-2257G>A
NM_030582.4:c.3492C>T (COL18A1)	NP_085059.2:p.Pro1164=
NM_130444.3:c.4197C>T (COL18A1)	NP_569711.2:p.Pro1399=
NM_130445.4:c.2952C>T (COL18A1)	NP_569712.2:p.Pro984=
NM_001379500.1:c.2961C>T (COL18A1) MANE Select	NP_001366429.1:p.Pro987=