Canonical Allele Identifier: CA236429
Gene: COL18A1 HGNC NCBI
SLC19A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 191317
ClinVar RCV Id: RCV000171509
dbSNP Id: rs753824908

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45504431C>T , CM000683.2:g.45504431C>T GRCh38
NC_000021.8:g.46924345C>T , CM000683.1:g.46924345C>T GRCh37
NC_000021.7:g.45748773C>T NCBI36
NG_011903.1:g.104249C>T
NG_028278.2:g.63713G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355480.10:c.3283C>T ENSP00000347665.5:p.Arg1095Ter
ENST00000651438.1:c.2743C>T (COL18A1) MANE Select ENSP00000498485.1:p.Arg915Ter
ENST00000342220.9:n.784C>T ENSP00000339118.5:p.Arg262Ter
ENST00000355480.9:c.3283C>T ENSP00000347665.5:p.Arg1095Ter
ENST00000359759.8:n.3988C>T ENSP00000352798.4:p.Arg1330Ter
ENST00000400337.6:c.2743C>T ENSP00000383191.2:p.Arg915Ter
ENST00000417954.5:n.498-5819G>A
ENST00000567670.5:c.1294-5819G>A ENSP00000457278.1:p.=
NM_030582.3:c.3283C>T (COL18A1) NP_085059.2:p.Arg1095Ter
NM_130444.2:c.3988C>T (COL18A1) NP_569711.2:p.Arg1330Ter
NM_130445.3:c.2743C>T (COL18A1) NP_569712.2:p.Arg915Ter
XM_011529707.1:c.1585-1462G>A (SLC19A1) XP_011528009.1:p.=
XM_017028445.2:c.1585-1462G>A (SLC19A1) XP_016883934.1:p.=
NM_030582.4:c.3283C>T (COL18A1) NP_085059.2:p.Arg1095Ter
NM_130444.3:c.3988C>T (COL18A1) NP_569711.2:p.Arg1330Ter
NM_130445.4:c.2743C>T (COL18A1) NP_569712.2:p.Arg915Ter
NM_001379500.1:c.2743C>T (COL18A1) MANE Select NP_001366429.1:p.Arg915Ter