Canonical Allele Identifier: CA2638704674
Gene: COL1A1 HGNC NCBI

Linked Data

gnomAD v4: 17-50190249-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50190249C>G , CM000679.2:g.50190249C>G GRCh38
NC_000017.10:g.48267610C>G , CM000679.1:g.48267610C>G GRCh37
NC_000017.9:g.45622609C>G NCBI36
NG_007400.1:g.16391G>C , LRG_1:g.16391G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.2451+78G>C MANE Select ENSP00000225964.6:n.2451+78G>C
ENST00000225964.9:c.2451+78G>C ENSP00000225964.5:n.2451+78G>C
NM_000088.3:c.2451+78G>C , LRG_1t1:c.2451+78G>C NP_000079.2:n.2451+78G>C
XM_005257058.3:c.2451+78G>C XP_005257115.2:n.2451+78G>C
XM_005257059.3:c.1533+78G>C XP_005257116.2:n.1533+78G>C
XM_011524341.1:c.2253+78G>C XP_011522643.1:n.2253+78G>C
XM_005257058.4:c.2451+78G>C XP_005257115.2:n.2451+78G>C
XM_005257059.4:c.1533+78G>C XP_005257116.2:n.1533+78G>C
NM_000088.4:c.2451+78G>C MANE Select NP_000079.2:n.2451+78G>C
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