Canonical Allele Identifier: CA410499026

Gene: COL18A1 SLC19A1

Linked Data

• gnomAD v4: 21-45504032-T-C
• MyVariant Identifiers: chr21:g.46923946T>C (hg19) ; chr21:g.45504032T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504032T>C , CM000683.2:g.45504032T>C	GRCh38
NC_000021.8:g.46923946T>C , CM000683.1:g.46923946T>C	GRCh37
NC_000021.7:g.45748374T>C	NCBI36
NG_011903.1:g.103850T>C
NG_028278.2:g.64112A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3245T>C (COL18A1)	ENSP00000347665.5:p.Leu1082Pro
ENST00000651438.1:c.2705T>C (COL18A1) MANE Select	ENSP00000498485.1:p.Leu902Pro
ENST00000342220.9:c.746T>C (COL18A1)	ENSP00000339118.5:p.Leu249Pro
ENST00000355480.9:c.3245T>C (COL18A1)	ENSP00000347665.5:p.Leu1082Pro
ENST00000359759.8:c.3950T>C (COL18A1)	ENSP00000352798.4:p.Leu1317Pro
ENST00000400337.6:c.2705T>C (COL18A1)	ENSP00000383191.2:p.Leu902Pro
ENST00000417954.5:c.498-5420A>G (SLC19A1)
ENST00000461785.1:n.90A>G (SLC19A1)
ENST00000567670.5:c.1294-5420A>G (SLC19A1)	ENSP00000457278.1:n.1294-5420A>G
NM_030582.3:c.3245T>C (COL18A1)	NP_085059.2:p.Leu1082Pro
NM_130444.2:c.3950T>C (COL18A1)	NP_569711.2:p.Leu1317Pro
NM_130445.3:c.2705T>C (COL18A1)	NP_569712.2:p.Leu902Pro
XM_011529707.1:c.1585-1063A>G (SLC19A1)	XP_011528009.1:n.1585-1063A>G
XM_017028445.2:c.1585-1063A>G (SLC19A1)	XP_016883934.1:n.1585-1063A>G
NM_030582.4:c.3245T>C (COL18A1)	NP_085059.2:p.Leu1082Pro
NM_130444.3:c.3950T>C (COL18A1)	NP_569711.2:p.Leu1317Pro
NM_130445.4:c.2705T>C (COL18A1)	NP_569712.2:p.Leu902Pro
NM_001379500.1:c.2705T>C (COL18A1) MANE Select	NP_001366429.1:p.Leu902Pro