Canonical Allele Identifier: CA8644234
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 779770
ClinVar RCV Id: RCV000960716 RCV001127263 RCV001127264 RCV001127265 RCV002327192
dbSNP Id: rs757759451
ExAC: 17:48263190 G / A
gnomAD v2: 17-48263190-G-A
gnomAD v3: 17-50185829-G-A
gnomAD v4: 17-50185829-G-A
MyVariant Identifiers: chr17:g.48263190G>A (hg19) chr17:g.50185829G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185829G>A , CM000679.2:g.50185829G>A GRCh38
NC_000017.10:g.48263190G>A , CM000679.1:g.48263190G>A GRCh37
NC_000017.9:g.45618189G>A NCBI36
NG_007400.1:g.20811C>T , LRG_1:g.20811C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4197C>T MANE Select ENSP00000225964.6:p.Arg1399=
ENST00000225964.9:c.4197C>T ENSP00000225964.5:p.Arg1399=
NM_000088.3:c.4197C>T , LRG_1t1:c.4197C>T NP_000079.2:p.Arg1399=
XM_005257058.3:c.3927C>T XP_005257115.2:p.Arg1309=
XM_005257059.3:c.3279C>T XP_005257116.2:p.Arg1093=
XM_011524341.1:c.3999C>T XP_011522643.1:p.Arg1333=
XM_005257058.4:c.3927C>T XP_005257115.2:p.Arg1309=
XM_005257059.4:c.3279C>T XP_005257116.2:p.Arg1093=
NM_000088.4:c.4197C>T MANE Select NP_000079.2:p.Arg1399=
Search 100 bp 5'
Search 100 bp 3'