Canonical Allele Identifier: CA8645528
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 838613
ClinVar RCV Id: RCV001040197
dbSNP Id: rs745367793
ExAC: 17:48274001 C / T
gnomAD v2: 17-48274001-C-T
gnomAD v4: 17-50196640-C-T
MyVariant Identifiers: chr17:g.48274001C>T (hg19) chr17:g.50196640C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50196640C>T , CM000679.2:g.50196640C>T GRCh38
NC_000017.10:g.48274001C>T , CM000679.1:g.48274001C>T GRCh37
NC_000017.9:g.45629000C>T NCBI36
NG_007400.1:g.10000G>A , LRG_1:g.10000G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.835G>A MANE Select ENSP00000225964.6:p.Asp279Asn
ENST00000225964.9:c.835G>A ENSP00000225964.5:p.Asp279Asn
ENST00000495677.1:n.562G>A
NM_000088.3:c.835G>A , LRG_1t1:c.835G>A NP_000079.2:p.Asp279Asn
XM_005257058.3:c.835G>A XP_005257115.2:p.Asp279Asn
XM_005257059.3:c.835G>A XP_005257116.2:p.Asp279Asn
XM_011524341.1:c.835G>A XP_011522643.1:p.Asp279Asn
XM_005257058.4:c.835G>A XP_005257115.2:p.Asp279Asn
XM_005257059.4:c.835G>A XP_005257116.2:p.Asp279Asn
NM_000088.4:c.835G>A MANE Select NP_000079.2:p.Asp279Asn
Search 100 bp 5'
Search 100 bp 3'