Canonical Allele Identifier: CA10067554

Gene: COL18A1 SLC19A1

Linked Data

• ClinVar Variation Id: 1422077
• ClinVar RCV Id: RCV001923928
• dbSNP Id: rs779499435
• ExAC: 21:46925102 C / A
• gnomAD v2: 21-46925102-C-A
• gnomAD v3: 21-45505188-C-A
• gnomAD v4: 21-45505188-C-A
• MyVariant Identifiers: chr21:g.46925102C>A (hg19) ; chr21:g.45505188C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505188C>A , CM000683.2:g.45505188C>A	GRCh38
NC_000021.8:g.46925102C>A , CM000683.1:g.46925102C>A	GRCh37
NC_000021.7:g.45749530C>A	NCBI36
NG_011903.1:g.104997C>A
NG_028278.2:g.62956G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3463C>A (COL18A1)	ENSP00000347665.5:p.Pro1155Thr
ENST00000651438.1:c.2923C>A (COL18A1) MANE Select	ENSP00000498485.1:p.Pro975Thr
ENST00000342220.9:c.964C>A (COL18A1)	ENSP00000339118.5:p.Pro322Thr
ENST00000355480.9:c.3463C>A (COL18A1)	ENSP00000347665.5:p.Pro1155Thr
ENST00000359759.8:c.4168C>A (COL18A1)	ENSP00000352798.4:p.Pro1390Thr
ENST00000400337.6:c.2923C>A (COL18A1)	ENSP00000383191.2:p.Pro975Thr
ENST00000417954.5:c.498-6576G>T (SLC19A1)
ENST00000567670.5:c.1294-6576G>T (SLC19A1)	ENSP00000457278.1:n.1294-6576G>T
NM_030582.3:c.3454C>A (COL18A1)	NP_085059.2:p.Pro1152Thr
NM_130444.2:c.4159C>A (COL18A1)	NP_569711.2:p.Pro1387Thr
NM_130445.3:c.2914C>A (COL18A1)	NP_569712.2:p.Pro972Thr
XM_011529707.1:c.1585-2219G>T (SLC19A1)	XP_011528009.1:n.1585-2219G>T
XM_017028445.2:c.1585-2219G>T (SLC19A1)	XP_016883934.1:n.1585-2219G>T
NM_030582.4:c.3454C>A (COL18A1)	NP_085059.2:p.Pro1152Thr
NM_130444.3:c.4159C>A (COL18A1)	NP_569711.2:p.Pro1387Thr
NM_130445.4:c.2914C>A (COL18A1)	NP_569712.2:p.Pro972Thr
NM_001379500.1:c.2923C>A (COL18A1) MANE Select	NP_001366429.1:p.Pro975Thr