Canonical Allele Identifier: CA2392196234

Gene: COL18A1 SLC19A1

Linked Data

• dbSNP Id: rs2037619872

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45511722_45511743dup , CM000683.2:g.45511722_45511743dup	GRCh38
NC_000021.8:g.46931636_46931657dup , CM000683.1:g.46931636_46931657dup	GRCh37
NC_000021.7:g.45756064_45756085dup	NCBI36
NG_011903.1:g.111531_111552dup
NG_028278.2:g.56401_56422dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.4350-466_4350-445dup (COL18A1)	ENSP00000347665.5:n.4350-466_4350-445dup
ENST00000651438.1:c.3810-466_3810-445dup (COL18A1) MANE Select	ENSP00000498485.1:n.3810-466_3810-445dup
ENST00000342220.9:c.1854-466_1854-445dup (COL18A1)	ENSP00000339118.5:n.1854-466_1854-445dup
ENST00000355480.9:c.4350-466_4350-445dup (COL18A1)	ENSP00000347665.5:n.4350-466_4350-445dup
ENST00000359759.8:c.5055-466_5055-445dup (COL18A1)	ENSP00000352798.4:n.5055-466_5055-445dup
ENST00000400337.6:c.3810-466_3810-445dup (COL18A1)	ENSP00000383191.2:n.3810-466_3810-445dup
ENST00000417954.5:c.498-13131_498-13110dup (SLC19A1)
ENST00000423214.1:c.764-466_764-445dup (COL18A1)
ENST00000473212.1:n.2136-466_2136-445dup (COL18A1)
ENST00000567670.5:c.1294-13131_1294-13110dup (SLC19A1)	ENSP00000457278.1:n.1294-13131_1294-13110dup
NM_030582.3:c.4341-466_4341-445dup (COL18A1)	NP_085059.2:n.4341-466_4341-445dup
NM_130444.2:c.5046-466_5046-445dup (COL18A1)	NP_569711.2:n.5046-466_5046-445dup
NM_130445.3:c.3801-466_3801-445dup (COL18A1)	NP_569712.2:n.3801-466_3801-445dup
XM_011529707.1:c.1585-8774_1585-8753dup (SLC19A1)	XP_011528009.1:n.1585-8774_1585-8753dup
XM_017028445.2:c.1585-8774_1585-8753dup (SLC19A1)	XP_016883934.1:n.1585-8774_1585-8753dup
NM_030582.4:c.4341-466_4341-445dup (COL18A1)	NP_085059.2:n.4341-466_4341-445dup
NM_130444.3:c.5046-466_5046-445dup (COL18A1)	NP_569711.2:n.5046-466_5046-445dup
NM_130445.4:c.3801-466_3801-445dup (COL18A1)	NP_569712.2:n.3801-466_3801-445dup
NM_001379500.1:c.3810-466_3810-445dup (COL18A1) MANE Select	NP_001366429.1:n.3810-466_3810-445dup