Canonical Allele Identifier: CA10067601

Gene: COL18A1 SLC19A1

Linked Data

• ClinVar Variation Id: 1959477
• ClinVar RCV Id: RCV002701296
• dbSNP Id: rs375478181
• ExAC: 21:46925181 C / T
• gnomAD v2: 21-46925181-C-T
• gnomAD v3: 21-45505267-C-T
• gnomAD v4: 21-45505267-C-T
• MyVariant Identifiers: chr21:g.46925181C>T (hg19) ; chr21:g.45505267C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505267C>T , CM000683.2:g.45505267C>T	GRCh38
NC_000021.8:g.46925181C>T , CM000683.1:g.46925181C>T	GRCh37
NC_000021.7:g.45749609C>T	NCBI36
NG_011903.1:g.105076C>T
NG_028278.2:g.62877G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3542C>T (COL18A1)	ENSP00000347665.5:p.Pro1181Leu
ENST00000651438.1:c.3002C>T (COL18A1) MANE Select	ENSP00000498485.1:p.Pro1001Leu
ENST00000342220.9:c.1043C>T (COL18A1)	ENSP00000339118.5:p.Pro348Leu
ENST00000355480.9:c.3542C>T (COL18A1)	ENSP00000347665.5:p.Pro1181Leu
ENST00000359759.8:c.4247C>T (COL18A1)	ENSP00000352798.4:p.Pro1416Leu
ENST00000400337.6:c.3002C>T (COL18A1)	ENSP00000383191.2:p.Pro1001Leu
ENST00000417954.5:c.498-6655G>A (SLC19A1)
ENST00000567670.5:c.1294-6655G>A (SLC19A1)	ENSP00000457278.1:n.1294-6655G>A
NM_030582.3:c.3533C>T (COL18A1)	NP_085059.2:p.Pro1178Leu
NM_130444.2:c.4238C>T (COL18A1)	NP_569711.2:p.Pro1413Leu
NM_130445.3:c.2993C>T (COL18A1)	NP_569712.2:p.Pro998Leu
XM_011529707.1:c.1585-2298G>A (SLC19A1)	XP_011528009.1:n.1585-2298G>A
XM_017028445.2:c.1585-2298G>A (SLC19A1)	XP_016883934.1:n.1585-2298G>A
NM_030582.4:c.3533C>T (COL18A1)	NP_085059.2:p.Pro1178Leu
NM_130444.3:c.4238C>T (COL18A1)	NP_569711.2:p.Pro1413Leu
NM_130445.4:c.2993C>T (COL18A1)	NP_569712.2:p.Pro998Leu
NM_001379500.1:c.3002C>T (COL18A1) MANE Select	NP_001366429.1:p.Pro1001Leu