Canonical Allele Identifier: CA10067181

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45496559C>T , CM000683.2:g.45496559C>T	GRCh38
NC_000021.8:g.46916473C>T , CM000683.1:g.46916473C>T	GRCh37
NC_000021.7:g.45740901C>T	NCBI36
NG_011903.1:g.96377C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001379500.1:c.2568C>T (COL18A1) MANE Select	NP_001366429.1:p.Tyr856=
ENST00000651438.1:c.2568C>T (COL18A1) MANE Select	ENSP00000498485.1:p.Tyr856=
NM_030582.3:c.3108C>T (COL18A1)	NP_085059.2:p.Tyr1036=
NM_030582.4:c.3108C>T (COL18A1)	NP_085059.2:p.Tyr1036=
NM_130444.2:c.3813C>T (COL18A1)	NP_569711.2:p.Tyr1271=
NM_130444.3:c.3813C>T (COL18A1)	NP_569711.2:p.Tyr1271=
NM_130445.3:c.2568C>T (COL18A1)	NP_569712.2:p.Tyr856=
NM_130445.4:c.2568C>T (COL18A1)	NP_569712.2:p.Tyr856=
ENST00000342220.9:c.609C>T (COL18A1)	ENSP00000339118.5:p.Tyr203=
ENST00000355480.10:c.3108C>T (COL18A1)	ENSP00000347665.5:p.Tyr1036=
ENST00000355480.9:c.3108C>T (COL18A1)	ENSP00000347665.5:p.Tyr1036=
ENST00000359759.8:c.3813C>T (COL18A1)	ENSP00000352798.4:p.Tyr1271=
ENST00000400337.6:c.2568C>T (COL18A1)	ENSP00000383191.2:p.Tyr856=
ENST00000417954.5:c.765-180G>A (SLC19A1)
ENST00000459895.1:n.322C>T (COL18A1)