Canonical Allele Identifier: CA2392195906

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45511195G= , CM000683.2:g.45511195G=	GRCh38
NC_000021.8:g.46931109G= , CM000683.1:g.46931109G=	GRCh37
NC_000021.7:g.45755537G=	NCBI36
NG_011903.1:g.111004G=
NG_028278.2:g.56949C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001379500.1:c.3778G= (COL18A1) MANE Select	NP_001366429.1:p.Asp1260=
ENST00000651438.1:c.3778G= (COL18A1) MANE Select	ENSP00000498485.1:p.Asp1260=
NM_030582.3:c.4309G= (COL18A1)	NP_085059.2:p.Asp1437=
NM_030582.4:c.4309G= (COL18A1)	NP_085059.2:p.Asp1437=
NM_130444.2:c.5014G= (COL18A1)	NP_569711.2:p.Asp1672=
NM_130444.3:c.5014G= (COL18A1)	NP_569711.2:p.Asp1672=
NM_130445.3:c.3769G= (COL18A1)	NP_569712.2:p.Asp1257=
NM_130445.4:c.3769G= (COL18A1)	NP_569712.2:p.Asp1257=
ENST00000342220.9:c.1822G= (COL18A1)	ENSP00000339118.5:p.Asp608=
ENST00000355480.10:c.4318G= (COL18A1)	ENSP00000347665.5:p.Asp1440=
ENST00000355480.9:c.4318G= (COL18A1)	ENSP00000347665.5:p.Asp1440=
ENST00000359759.8:c.5023G= (COL18A1)	ENSP00000352798.4:p.Asp1675=
ENST00000400337.6:c.3778G= (COL18A1)	ENSP00000383191.2:p.Asp1260=
ENST00000417954.5:c.498-12583C= (SLC19A1)
ENST00000423214.1:c.732G= (COL18A1)
ENST00000473212.1:n.2104G= (COL18A1)
ENST00000567670.5:c.1294-12583C= (SLC19A1)	ENSP00000457278.1:n.1294-12583C=
XM_011529707.1:c.1585-8226C= (SLC19A1)	XP_011528009.1:n.1585-8226C=
XM_017028445.2:c.1585-8226C= (SLC19A1)	XP_016883934.1:n.1585-8226C=