Canonical Allele Identifier: CA400220996
Gene: COL1A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.48273297G>C (hg19) chr17:g.50195936G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50195936G>C , CM000679.2:g.50195936G>C GRCh38
NC_000017.10:g.48273297G>C , CM000679.1:g.48273297G>C GRCh37
NC_000017.9:g.45628296G>C NCBI36
NG_007400.1:g.10704C>G , LRG_1:g.10704C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1043C>G MANE Select ENSP00000225964.6:p.Ala348Gly
ENST00000225964.9:c.1043C>G ENSP00000225964.5:p.Ala348Gly
NM_000088.3:c.1043C>G , LRG_1t1:c.1043C>G NP_000079.2:p.Ala348Gly
XM_005257058.3:c.1043C>G XP_005257115.2:p.Ala348Gly
XM_005257059.3:c.957+378C>G XP_005257116.2:n.957+378C>G
XM_011524341.1:c.957+378C>G XP_011522643.1:n.957+378C>G
XM_005257058.4:c.1043C>G XP_005257115.2:p.Ala348Gly
XM_005257059.4:c.957+378C>G XP_005257116.2:n.957+378C>G
NM_000088.4:c.1043C>G MANE Select NP_000079.2:p.Ala348Gly
Search 100 bp 5'
Search 100 bp 3'