Canonical Allele Identifier: CA410499590

Gene: COL18A1 SLC19A1

Linked Data

• ClinVar Variation Id: 1351786
• ClinVar RCV Id: RCV002044995
• dbSNP Id: rs1386207254
• MyVariant Identifiers: chr21:g.46925162C>A (hg19) ; chr21:g.45505248C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505248C>A , CM000683.2:g.45505248C>A	GRCh38
NC_000021.8:g.46925162C>A , CM000683.1:g.46925162C>A	GRCh37
NC_000021.7:g.45749590C>A	NCBI36
NG_011903.1:g.105057C>A
NG_028278.2:g.62896G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3523C>A (COL18A1)	ENSP00000347665.5:p.Pro1175Thr
ENST00000651438.1:c.2983C>A (COL18A1) MANE Select	ENSP00000498485.1:p.Pro995Thr
ENST00000342220.9:c.1024C>A (COL18A1)	ENSP00000339118.5:p.Pro342Thr
ENST00000355480.9:c.3523C>A (COL18A1)	ENSP00000347665.5:p.Pro1175Thr
ENST00000359759.8:c.4228C>A (COL18A1)	ENSP00000352798.4:p.Pro1410Thr
ENST00000400337.6:c.2983C>A (COL18A1)	ENSP00000383191.2:p.Pro995Thr
ENST00000417954.5:c.498-6636G>T (SLC19A1)
ENST00000567670.5:c.1294-6636G>T (SLC19A1)	ENSP00000457278.1:n.1294-6636G>T
NM_030582.3:c.3514C>A (COL18A1)	NP_085059.2:p.Pro1172Thr
NM_130444.2:c.4219C>A (COL18A1)	NP_569711.2:p.Pro1407Thr
NM_130445.3:c.2974C>A (COL18A1)	NP_569712.2:p.Pro992Thr
XM_011529707.1:c.1585-2279G>T (SLC19A1)	XP_011528009.1:n.1585-2279G>T
XM_017028445.2:c.1585-2279G>T (SLC19A1)	XP_016883934.1:n.1585-2279G>T
NM_030582.4:c.3514C>A (COL18A1)	NP_085059.2:p.Pro1172Thr
NM_130444.3:c.4219C>A (COL18A1)	NP_569711.2:p.Pro1407Thr
NM_130445.4:c.2974C>A (COL18A1)	NP_569712.2:p.Pro992Thr
NM_001379500.1:c.2983C>A (COL18A1) MANE Select	NP_001366429.1:p.Pro995Thr