Canonical Allele Identifier: CA10067599

Gene: COL18A1 SLC19A1

Linked Data

• ClinVar Variation Id: 1620374
• ClinVar RCV Id: RCV002091501
• dbSNP Id: rs778364546
• ExAC: 21:46925176 T / C
• gnomAD v2: 21-46925176-T-C
• gnomAD v3: 21-45505262-T-C
• gnomAD v4: 21-45505262-T-C
• MyVariant Identifiers: chr21:g.46925176T>C (hg19) ; chr21:g.45505262T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505262T>C , CM000683.2:g.45505262T>C	GRCh38
NC_000021.8:g.46925176T>C , CM000683.1:g.46925176T>C	GRCh37
NC_000021.7:g.45749604T>C	NCBI36
NG_011903.1:g.105071T>C
NG_028278.2:g.62882A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3537T>C (COL18A1)	ENSP00000347665.5:p.Pro1179=
ENST00000651438.1:c.2997T>C (COL18A1) MANE Select	ENSP00000498485.1:p.Pro999=
ENST00000342220.9:c.1038T>C (COL18A1)	ENSP00000339118.5:p.Pro346=
ENST00000355480.9:c.3537T>C (COL18A1)	ENSP00000347665.5:p.Pro1179=
ENST00000359759.8:c.4242T>C (COL18A1)	ENSP00000352798.4:p.Pro1414=
ENST00000400337.6:c.2997T>C (COL18A1)	ENSP00000383191.2:p.Pro999=
ENST00000417954.5:c.498-6650A>G (SLC19A1)
ENST00000567670.5:c.1294-6650A>G (SLC19A1)	ENSP00000457278.1:n.1294-6650A>G
NM_030582.3:c.3528T>C (COL18A1)	NP_085059.2:p.Pro1176=
NM_130444.2:c.4233T>C (COL18A1)	NP_569711.2:p.Pro1411=
NM_130445.3:c.2988T>C (COL18A1)	NP_569712.2:p.Pro996=
XM_011529707.1:c.1585-2293A>G (SLC19A1)	XP_011528009.1:n.1585-2293A>G
XM_017028445.2:c.1585-2293A>G (SLC19A1)	XP_016883934.1:n.1585-2293A>G
NM_030582.4:c.3528T>C (COL18A1)	NP_085059.2:p.Pro1176=
NM_130444.3:c.4233T>C (COL18A1)	NP_569711.2:p.Pro1411=
NM_130445.4:c.2988T>C (COL18A1)	NP_569712.2:p.Pro996=
NM_001379500.1:c.2997T>C (COL18A1) MANE Select	NP_001366429.1:p.Pro999=