Canonical Allele Identifier: CA2573154223
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1582400
ClinVar RCV Id: RCV002111180
dbSNP Id: rs2144583154
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50197001G>T , CM000679.2:g.50197001G>T GRCh38
NC_000017.10:g.48274362G>T , CM000679.1:g.48274362G>T GRCh37
NC_000017.9:g.45629361G>T NCBI36
NG_007400.1:g.9639C>A , LRG_1:g.9639C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.804+9C>A MANE Select ENSP00000225964.6:n.804+9C>A
ENST00000225964.9:c.804+9C>A ENSP00000225964.5:n.804+9C>A
ENST00000495677.1:n.531+9C>A
NM_000088.3:c.804+9C>A , LRG_1t1:c.804+9C>A NP_000079.2:n.804+9C>A
XM_005257058.3:c.804+9C>A XP_005257115.2:n.804+9C>A
XM_005257059.3:c.804+9C>A XP_005257116.2:n.804+9C>A
XM_011524341.1:c.804+9C>A XP_011522643.1:n.804+9C>A
XM_005257058.4:c.804+9C>A XP_005257115.2:n.804+9C>A
XM_005257059.4:c.804+9C>A XP_005257116.2:n.804+9C>A
NM_000088.4:c.804+9C>A MANE Select NP_000079.2:n.804+9C>A
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