Canonical Allele Identifier: CA410502047

Gene: COL18A1 SLC19A1

Linked Data

• MyVariant Identifiers: chr21:g.46931122T>C (hg19) ; chr21:g.45511208T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45511208T>C , CM000683.2:g.45511208T>C	GRCh38
NC_000021.8:g.46931122T>C , CM000683.1:g.46931122T>C	GRCh37
NC_000021.7:g.45755550T>C	NCBI36
NG_011903.1:g.111017T>C
NG_028278.2:g.56936A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.4331T>C (COL18A1)	ENSP00000347665.5:p.Val1444Ala
ENST00000651438.1:c.3791T>C (COL18A1) MANE Select	ENSP00000498485.1:p.Val1264Ala
ENST00000342220.9:c.1835T>C (COL18A1)	ENSP00000339118.5:p.Val612Ala
ENST00000355480.9:c.4331T>C (COL18A1)	ENSP00000347665.5:p.Val1444Ala
ENST00000359759.8:c.5036T>C (COL18A1)	ENSP00000352798.4:p.Val1679Ala
ENST00000400337.6:c.3791T>C (COL18A1)	ENSP00000383191.2:p.Val1264Ala
ENST00000417954.5:c.498-12596A>G (SLC19A1)
ENST00000423214.1:c.745T>C (COL18A1)
ENST00000473212.1:n.2117T>C (COL18A1)
ENST00000567670.5:c.1294-12596A>G (SLC19A1)	ENSP00000457278.1:n.1294-12596A>G
NM_030582.3:c.4322T>C (COL18A1)	NP_085059.2:p.Val1441Ala
NM_130444.2:c.5027T>C (COL18A1)	NP_569711.2:p.Val1676Ala
NM_130445.3:c.3782T>C (COL18A1)	NP_569712.2:p.Val1261Ala
XM_011529707.1:c.1585-8239A>G (SLC19A1)	XP_011528009.1:n.1585-8239A>G
XM_017028445.2:c.1585-8239A>G (SLC19A1)	XP_016883934.1:n.1585-8239A>G
NM_030582.4:c.4322T>C (COL18A1)	NP_085059.2:p.Val1441Ala
NM_130444.3:c.5027T>C (COL18A1)	NP_569711.2:p.Val1676Ala
NM_130445.4:c.3782T>C (COL18A1)	NP_569712.2:p.Val1261Ala
NM_001379500.1:c.3791T>C (COL18A1) MANE Select	NP_001366429.1:p.Val1264Ala