Canonical Allele Identifier: CA410499417

Gene: COL18A1 SLC19A1

Linked Data

• MyVariant Identifiers: chr21:g.46925067T>G (hg19) ; chr21:g.45505153T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505153T>G , CM000683.2:g.45505153T>G	GRCh38
NC_000021.8:g.46925067T>G , CM000683.1:g.46925067T>G	GRCh37
NC_000021.7:g.45749495T>G	NCBI36
NG_011903.1:g.104962T>G
NG_028278.2:g.62991A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3428T>G (COL18A1)	ENSP00000347665.5:p.Ile1143Ser
ENST00000651438.1:c.2888T>G (COL18A1) MANE Select	ENSP00000498485.1:p.Ile963Ser
ENST00000342220.9:c.929T>G (COL18A1)	ENSP00000339118.5:p.Ile310Ser
ENST00000355480.9:c.3428T>G (COL18A1)	ENSP00000347665.5:p.Ile1143Ser
ENST00000359759.8:c.4133T>G (COL18A1)	ENSP00000352798.4:p.Ile1378Ser
ENST00000400337.6:c.2888T>G (COL18A1)	ENSP00000383191.2:p.Ile963Ser
ENST00000417954.5:c.498-6541A>C (SLC19A1)
ENST00000567670.5:c.1294-6541A>C (SLC19A1)	ENSP00000457278.1:n.1294-6541A>C
NM_030582.3:c.3419T>G (COL18A1)	NP_085059.2:p.Ile1140Ser
NM_130444.2:c.4124T>G (COL18A1)	NP_569711.2:p.Ile1375Ser
NM_130445.3:c.2879T>G (COL18A1)	NP_569712.2:p.Ile960Ser
XM_011529707.1:c.1585-2184A>C (SLC19A1)	XP_011528009.1:n.1585-2184A>C
XM_017028445.2:c.1585-2184A>C (SLC19A1)	XP_016883934.1:n.1585-2184A>C
NM_030582.4:c.3419T>G (COL18A1)	NP_085059.2:p.Ile1140Ser
NM_130444.3:c.4124T>G (COL18A1)	NP_569711.2:p.Ile1375Ser
NM_130445.4:c.2879T>G (COL18A1)	NP_569712.2:p.Ile960Ser
NM_001379500.1:c.2888T>G (COL18A1) MANE Select	NP_001366429.1:p.Ile963Ser