Canonical Allele Identifier: CA410499420

Gene: COL18A1 SLC19A1

Linked Data

• gnomAD v4: 21-45505156-G-T
• MyVariant Identifiers: chr21:g.46925070G>T (hg19) ; chr21:g.45505156G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505156G>T , CM000683.2:g.45505156G>T	GRCh38
NC_000021.8:g.46925070G>T , CM000683.1:g.46925070G>T	GRCh37
NC_000021.7:g.45749498G>T	NCBI36
NG_011903.1:g.104965G>T
NG_028278.2:g.62988C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3431G>T (COL18A1)	ENSP00000347665.5:p.Arg1144Leu
ENST00000651438.1:c.2891G>T (COL18A1) MANE Select	ENSP00000498485.1:p.Arg964Leu
ENST00000342220.9:c.932G>T (COL18A1)	ENSP00000339118.5:p.Arg311Leu
ENST00000355480.9:c.3431G>T (COL18A1)	ENSP00000347665.5:p.Arg1144Leu
ENST00000359759.8:c.4136G>T (COL18A1)	ENSP00000352798.4:p.Arg1379Leu
ENST00000400337.6:c.2891G>T (COL18A1)	ENSP00000383191.2:p.Arg964Leu
ENST00000417954.5:c.498-6544C>A (SLC19A1)
ENST00000567670.5:c.1294-6544C>A (SLC19A1)	ENSP00000457278.1:n.1294-6544C>A
NM_030582.3:c.3422G>T (COL18A1)	NP_085059.2:p.Arg1141Leu
NM_130444.2:c.4127G>T (COL18A1)	NP_569711.2:p.Arg1376Leu
NM_130445.3:c.2882G>T (COL18A1)	NP_569712.2:p.Arg961Leu
XM_011529707.1:c.1585-2187C>A (SLC19A1)	XP_011528009.1:n.1585-2187C>A
XM_017028445.2:c.1585-2187C>A (SLC19A1)	XP_016883934.1:n.1585-2187C>A
NM_030582.4:c.3422G>T (COL18A1)	NP_085059.2:p.Arg1141Leu
NM_130444.3:c.4127G>T (COL18A1)	NP_569711.2:p.Arg1376Leu
NM_130445.4:c.2882G>T (COL18A1)	NP_569712.2:p.Arg961Leu
NM_001379500.1:c.2891G>T (COL18A1) MANE Select	NP_001366429.1:p.Arg964Leu