Canonical Allele Identifier: CA8645022
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 324111
ClinVar RCV Id: RCV000271525 RCV000310291 RCV000363691 RCV002521114
dbSNP Id: rs775106436
ExAC: 17:48270042 C / T
gnomAD v2: 17-48270042-C-T
gnomAD v3: 17-50192681-C-T
gnomAD v4: 17-50192681-C-T
MyVariant Identifiers: chr17:g.48270042C>T (hg19) chr17:g.50192681C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50192681C>T , CM000679.2:g.50192681C>T GRCh38
NC_000017.10:g.48270042C>T , CM000679.1:g.48270042C>T GRCh37
NC_000017.9:g.45625041C>T NCBI36
NG_007400.1:g.13959G>A , LRG_1:g.13959G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1888G>A MANE Select ENSP00000225964.6:p.Glu630Lys
ENST00000225964.9:c.1888G>A ENSP00000225964.5:p.Glu630Lys
ENST00000476387.1:n.237G>A
NM_000088.3:c.1888G>A , LRG_1t1:c.1888G>A NP_000079.2:p.Glu630Lys
XM_005257058.3:c.1888G>A XP_005257115.2:p.Glu630Lys
XM_005257059.3:c.970G>A XP_005257116.2:p.Glu324Lys
XM_011524341.1:c.1690G>A XP_011522643.1:p.Glu564Lys
XM_005257058.4:c.1888G>A XP_005257115.2:p.Glu630Lys
XM_005257059.4:c.970G>A XP_005257116.2:p.Glu324Lys
NM_000088.4:c.1888G>A MANE Select NP_000079.2:p.Glu630Lys
Search 100 bp 5'
Search 100 bp 3'