Canonical Allele Identifier: CA10067379

Gene: COL18A1 SLC19A1

Linked Data

• dbSNP Id: rs753479549
• ExAC: 21:46923901 A / AC
• gnomAD v2: 21-46923901-A-AC
• gnomAD v3: 21-45503987-A-AC
• gnomAD v4: 21-45503987-A-AC
• MyVariant Identifiers: chr21:g.46923901_46923902insC (hg19) ; chr21:g.45503987_45503988insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45503991dup , CM000683.2:g.45503991dup	GRCh38
NC_000021.8:g.46923905dup , CM000683.1:g.46923905dup	GRCh37
NC_000021.7:g.45748333dup	NCBI36
NG_011903.1:g.103809dup
NG_028278.2:g.64156dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3224-20dup (COL18A1)	ENSP00000347665.5:n.3224-20dup
ENST00000651438.1:c.2684-20dup (COL18A1) MANE Select	ENSP00000498485.1:n.2684-20dup
ENST00000342220.9:c.725-20dup (COL18A1)	ENSP00000339118.5:n.725-20dup
ENST00000355480.9:c.3224-20dup (COL18A1)	ENSP00000347665.5:n.3224-20dup
ENST00000359759.8:c.3929-20dup (COL18A1)	ENSP00000352798.4:n.3929-20dup
ENST00000400337.6:c.2684-20dup (COL18A1)	ENSP00000383191.2:n.2684-20dup
ENST00000417954.5:c.498-5376dup (SLC19A1)
ENST00000461785.1:n.134dup (SLC19A1)
ENST00000567670.5:c.1294-5376dup (SLC19A1)	ENSP00000457278.1:n.1294-5376dup
NM_030582.3:c.3224-20dup (COL18A1)	NP_085059.2:n.3224-20dup
NM_130444.2:c.3929-20dup (COL18A1)	NP_569711.2:n.3929-20dup
NM_130445.3:c.2684-20dup (COL18A1)	NP_569712.2:n.2684-20dup
XM_011529707.1:c.1585-1019dup (SLC19A1)	XP_011528009.1:n.1585-1019dup
XM_017028445.2:c.1585-1019dup (SLC19A1)	XP_016883934.1:n.1585-1019dup
NM_030582.4:c.3224-20dup (COL18A1)	NP_085059.2:n.3224-20dup
NM_130444.3:c.3929-20dup (COL18A1)	NP_569711.2:n.3929-20dup
NM_130445.4:c.2684-20dup (COL18A1)	NP_569712.2:n.2684-20dup
NM_001379500.1:c.2684-20dup (COL18A1) MANE Select	NP_001366429.1:n.2684-20dup