Canonical Allele Identifier: CA8645389
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 526872
ClinVar RCV Id: RCV000631503 RCV001584459 RCV004547778
dbSNP Id: rs764381074
ExAC: 17:48272951 G / C
gnomAD v2: 17-48272951-G-C
gnomAD v3: 17-50195590-G-C
gnomAD v4: 17-50195590-G-C
MyVariant Identifiers: chr17:g.48272951G>C (hg19) chr17:g.50195590G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50195590G>C , CM000679.2:g.50195590G>C GRCh38
NC_000017.10:g.48272951G>C , CM000679.1:g.48272951G>C GRCh37
NC_000017.9:g.45627950G>C NCBI36
NG_007400.1:g.11050C>G , LRG_1:g.11050C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1132C>G MANE Select ENSP00000225964.6:p.Pro378Ala
ENST00000225964.9:c.1132C>G ENSP00000225964.5:p.Pro378Ala
ENST00000471344.1:n.76C>G
NM_000088.3:c.1132C>G , LRG_1t1:c.1132C>G NP_000079.2:p.Pro378Ala
XM_005257058.3:c.1132C>G XP_005257115.2:p.Pro378Ala
XM_005257059.3:c.957+724C>G XP_005257116.2:n.957+724C>G
XM_011524341.1:c.958-112C>G XP_011522643.1:n.958-112C>G
XM_005257058.4:c.1132C>G XP_005257115.2:p.Pro378Ala
XM_005257059.4:c.957+724C>G XP_005257116.2:n.957+724C>G
NM_000088.4:c.1132C>G MANE Select NP_000079.2:p.Pro378Ala
Search 100 bp 5'
Search 100 bp 3'