Canonical Allele Identifier: CA2392194958

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45510092T= , CM000683.2:g.45510092T=	GRCh38
NC_000021.8:g.46930006T= , CM000683.1:g.46930006T=	GRCh37
NC_000021.7:g.45754434T=	NCBI36
NG_011903.1:g.109901T=
NG_028278.2:g.58052A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.4064T= (COL18A1)	ENSP00000347665.5:p.Leu1355=
ENST00000651438.1:c.3524T= (COL18A1) MANE Select	ENSP00000498485.1:p.Leu1175=
ENST00000342220.9:c.1568T= (COL18A1)	ENSP00000339118.5:p.Leu523=
ENST00000355480.9:c.4064T= (COL18A1)	ENSP00000347665.5:p.Leu1355=
ENST00000359759.8:c.4769T= (COL18A1)	ENSP00000352798.4:p.Leu1590=
ENST00000400337.6:c.3524T= (COL18A1)	ENSP00000383191.2:p.Leu1175=
ENST00000417954.5:c.498-11480A= (SLC19A1)
ENST00000423214.1:c.478T= (COL18A1)
ENST00000473212.1:n.1850T= (COL18A1)
ENST00000567670.5:c.1294-11480A= (SLC19A1)	ENSP00000457278.1:n.1294-11480A=
NM_030582.3:c.4055T= (COL18A1)	NP_085059.2:p.Leu1352=
NM_130444.2:c.4760T= (COL18A1)	NP_569711.2:p.Leu1587=
NM_130445.3:c.3515T= (COL18A1)	NP_569712.2:p.Leu1172=
XM_011529707.1:c.1585-7123A= (SLC19A1)	XP_011528009.1:n.1585-7123A=
XM_017028445.2:c.1585-7123A= (SLC19A1)	XP_016883934.1:n.1585-7123A=
NM_030582.4:c.4055T= (COL18A1)	NP_085059.2:p.Leu1352=
NM_130444.3:c.4760T= (COL18A1)	NP_569711.2:p.Leu1587=
NM_130445.4:c.3515T= (COL18A1)	NP_569712.2:p.Leu1172=
NM_001379500.1:c.3524T= (COL18A1) MANE Select	NP_001366429.1:p.Leu1175=