Canonical Allele Identifier: CA410502044

Gene: COL18A1 SLC19A1

Linked Data

• MyVariant Identifiers: chr21:g.46931121G>C (hg19) ; chr21:g.45511207G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45511207G>C , CM000683.2:g.45511207G>C	GRCh38
NC_000021.8:g.46931121G>C , CM000683.1:g.46931121G>C	GRCh37
NC_000021.7:g.45755549G>C	NCBI36
NG_011903.1:g.111016G>C
NG_028278.2:g.56937C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.4330G>C (COL18A1)	ENSP00000347665.5:p.Val1444Leu
ENST00000651438.1:c.3790G>C (COL18A1) MANE Select	ENSP00000498485.1:p.Val1264Leu
ENST00000342220.9:c.1834G>C (COL18A1)	ENSP00000339118.5:p.Val612Leu
ENST00000355480.9:c.4330G>C (COL18A1)	ENSP00000347665.5:p.Val1444Leu
ENST00000359759.8:c.5035G>C (COL18A1)	ENSP00000352798.4:p.Val1679Leu
ENST00000400337.6:c.3790G>C (COL18A1)	ENSP00000383191.2:p.Val1264Leu
ENST00000417954.5:c.498-12595C>G (SLC19A1)
ENST00000423214.1:c.744G>C (COL18A1)
ENST00000473212.1:n.2116G>C (COL18A1)
ENST00000567670.5:c.1294-12595C>G (SLC19A1)	ENSP00000457278.1:n.1294-12595C>G
NM_030582.3:c.4321G>C (COL18A1)	NP_085059.2:p.Val1441Leu
NM_130444.2:c.5026G>C (COL18A1)	NP_569711.2:p.Val1676Leu
NM_130445.3:c.3781G>C (COL18A1)	NP_569712.2:p.Val1261Leu
XM_011529707.1:c.1585-8238C>G (SLC19A1)	XP_011528009.1:n.1585-8238C>G
XM_017028445.2:c.1585-8238C>G (SLC19A1)	XP_016883934.1:n.1585-8238C>G
NM_030582.4:c.4321G>C (COL18A1)	NP_085059.2:p.Val1441Leu
NM_130444.3:c.5026G>C (COL18A1)	NP_569711.2:p.Val1676Leu
NM_130445.4:c.3781G>C (COL18A1)	NP_569712.2:p.Val1261Leu
NM_001379500.1:c.3790G>C (COL18A1) MANE Select	NP_001366429.1:p.Val1264Leu