Canonical Allele Identifier: CA260325
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 35928
ClinVar RCV Id: RCV000029583 RCV000798967
dbSNP Id: rs193922158
MyVariant Identifiers: chr17:g.48274426T>C (hg19) chr17:g.50197065T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50197065T>C , CM000679.2:g.50197065T>C GRCh38
NC_000017.10:g.48274426T>C , CM000679.1:g.48274426T>C GRCh37
NC_000017.9:g.45629425T>C NCBI36
NG_007400.1:g.9575A>G , LRG_1:g.9575A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.751-2A>G MANE Select ENSP00000225964.6:n.751-2A>G
ENST00000225964.9:c.751-2A>G ENSP00000225964.5:n.751-2A>G
ENST00000495677.1:n.478-2A>G
NM_000088.3:c.751-2A>G , LRG_1t1:c.751-2A>G NP_000079.2:n.751-2A>G
XM_005257058.3:c.751-2A>G XP_005257115.2:n.751-2A>G
XM_005257059.3:c.751-2A>G XP_005257116.2:n.751-2A>G
XM_011524341.1:c.751-2A>G XP_011522643.1:n.751-2A>G
XM_005257058.4:c.751-2A>G XP_005257115.2:n.751-2A>G
XM_005257059.4:c.751-2A>G XP_005257116.2:n.751-2A>G
NM_000088.4:c.751-2A>G MANE Select NP_000079.2:n.751-2A>G
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