Canonical Allele Identifier: CA10067064
Community Standard Title: NM_001379500.1(COL18A1):c.2388C>T (p.Tyr796=)
Gene: COL18A1 HGNC NCBI
SLC19A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45494870C>T , CM000683.2:g.45494870C>T GRCh38
NC_000021.8:g.46914784C>T , CM000683.1:g.46914784C>T GRCh37
NC_000021.7:g.45739212C>T NCBI36
NG_011903.1:g.94688C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001379500.1:c.2388C>T (COL18A1) MANE Select NP_001366429.1:p.Tyr796=
ENST00000651438.1:c.2388C>T (COL18A1) MANE Select ENSP00000498485.1:p.Tyr796=
NM_030582.3:c.2928C>T (COL18A1) NP_085059.2:p.Tyr976=
NM_030582.4:c.2928C>T (COL18A1) NP_085059.2:p.Tyr976=
NM_130444.2:c.3633C>T (COL18A1) NP_569711.2:p.Tyr1211=
NM_130444.3:c.3633C>T (COL18A1) NP_569711.2:p.Tyr1211=
NM_130445.3:c.2388C>T (COL18A1) NP_569712.2:p.Tyr796=
NM_130445.4:c.2388C>T (COL18A1) NP_569712.2:p.Tyr796=
ENST00000342220.9:c.429C>T (COL18A1) ENSP00000339118.5:p.Tyr143=
ENST00000355480.10:c.2928C>T (COL18A1) ENSP00000347665.5:p.Tyr976=
ENST00000355480.9:c.2928C>T (COL18A1) ENSP00000347665.5:p.Tyr976=
ENST00000359759.8:c.3633C>T (COL18A1) ENSP00000352798.4:p.Tyr1211=
ENST00000400337.6:c.2388C>T (COL18A1) ENSP00000383191.2:p.Tyr796=
ENST00000417954.5:c.2274G>A (SLC19A1)
ENST00000459895.1:n.142C>T (COL18A1)