Canonical Allele Identifier: CA410499445

Gene: COL18A1 SLC19A1

Linked Data

• MyVariant Identifiers: chr21:g.46925085C>T (hg19) ; chr21:g.45505171C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505171C>T , CM000683.2:g.45505171C>T	GRCh38
NC_000021.8:g.46925085C>T , CM000683.1:g.46925085C>T	GRCh37
NC_000021.7:g.45749513C>T	NCBI36
NG_011903.1:g.104980C>T
NG_028278.2:g.62973G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3446C>T (COL18A1)	ENSP00000347665.5:p.Pro1149Leu
ENST00000651438.1:c.2906C>T (COL18A1) MANE Select	ENSP00000498485.1:p.Pro969Leu
ENST00000342220.9:c.947C>T (COL18A1)	ENSP00000339118.5:p.Pro316Leu
ENST00000355480.9:c.3446C>T (COL18A1)	ENSP00000347665.5:p.Pro1149Leu
ENST00000359759.8:c.4151C>T (COL18A1)	ENSP00000352798.4:p.Pro1384Leu
ENST00000400337.6:c.2906C>T (COL18A1)	ENSP00000383191.2:p.Pro969Leu
ENST00000417954.5:c.498-6559G>A (SLC19A1)
ENST00000567670.5:c.1294-6559G>A (SLC19A1)	ENSP00000457278.1:n.1294-6559G>A
NM_030582.3:c.3437C>T (COL18A1)	NP_085059.2:p.Pro1146Leu
NM_130444.2:c.4142C>T (COL18A1)	NP_569711.2:p.Pro1381Leu
NM_130445.3:c.2897C>T (COL18A1)	NP_569712.2:p.Pro966Leu
XM_011529707.1:c.1585-2202G>A (SLC19A1)	XP_011528009.1:n.1585-2202G>A
XM_017028445.2:c.1585-2202G>A (SLC19A1)	XP_016883934.1:n.1585-2202G>A
NM_030582.4:c.3437C>T (COL18A1)	NP_085059.2:p.Pro1146Leu
NM_130444.3:c.4142C>T (COL18A1)	NP_569711.2:p.Pro1381Leu
NM_130445.4:c.2897C>T (COL18A1)	NP_569712.2:p.Pro966Leu
NM_001379500.1:c.2906C>T (COL18A1) MANE Select	NP_001366429.1:p.Pro969Leu