Canonical Allele Identifier: CA400221370
Gene: COL1A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.48273543A>C (hg19) chr17:g.50196182A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50196182A>C , CM000679.2:g.50196182A>C GRCh38
NC_000017.10:g.48273543A>C , CM000679.1:g.48273543A>C GRCh37
NC_000017.9:g.45628542A>C NCBI36
NG_007400.1:g.10458T>G , LRG_1:g.10458T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.975T>G MANE Select ENSP00000225964.6:p.Asp325Glu
ENST00000225964.9:c.975T>G ENSP00000225964.5:p.Asp325Glu
ENST00000485870.1:n.300T>G
NM_000088.3:c.975T>G , LRG_1t1:c.975T>G NP_000079.2:p.Asp325Glu
XM_005257058.3:c.975T>G XP_005257115.2:p.Asp325Glu
XM_005257059.3:c.957+132T>G XP_005257116.2:n.957+132T>G
XM_011524341.1:c.957+132T>G XP_011522643.1:n.957+132T>G
XM_005257058.4:c.975T>G XP_005257115.2:p.Asp325Glu
XM_005257059.4:c.957+132T>G XP_005257116.2:n.957+132T>G
NM_000088.4:c.975T>G MANE Select NP_000079.2:p.Asp325Glu
Search 100 bp 5'
Search 100 bp 3'