Canonical Allele Identifier: CA8644745
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 456752
ClinVar RCV Id: RCV002438296 RCV002497061 RCV003319367
dbSNP Id: rs779846520
ExAC: 17:48267231 C / T
gnomAD v2: 17-48267231-C-T
gnomAD v3: 17-50189870-C-T
gnomAD v4: 17-50189870-C-T
MyVariant Identifiers: chr17:g.48267231C>T (hg19) chr17:g.50189870C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50189870C>T , CM000679.2:g.50189870C>T GRCh38
NC_000017.10:g.48267231C>T , CM000679.1:g.48267231C>T GRCh37
NC_000017.9:g.45622230C>T NCBI36
NG_007400.1:g.16770G>A , LRG_1:g.16770G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.2602G>A MANE Select ENSP00000225964.6:p.Ala868Thr
ENST00000225964.9:c.2602G>A ENSP00000225964.5:p.Ala868Thr
NM_000088.3:c.2602G>A , LRG_1t1:c.2602G>A NP_000079.2:p.Ala868Thr
XM_005257058.3:c.2602G>A XP_005257115.2:p.Ala868Thr
XM_005257059.3:c.1684G>A XP_005257116.2:p.Ala562Thr
XM_011524341.1:c.2404G>A XP_011522643.1:p.Ala802Thr
XM_005257058.4:c.2602G>A XP_005257115.2:p.Ala868Thr
XM_005257059.4:c.1684G>A XP_005257116.2:p.Ala562Thr
NM_000088.4:c.2602G>A MANE Select NP_000079.2:p.Ala868Thr
Search 100 bp 5'
Search 100 bp 3'