Canonical Allele Identifier: CA2638677953
Gene: COL1A1 HGNC NCBI

Linked Data

gnomAD v4: 17-50197127-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50197127A>C , CM000679.2:g.50197127A>C GRCh38
NC_000017.10:g.48274488A>C , CM000679.1:g.48274488A>C GRCh37
NC_000017.9:g.45629487A>C NCBI36
NG_007400.1:g.9513T>G , LRG_1:g.9513T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.750+53T>G MANE Select ENSP00000225964.6:n.750+53T>G
ENST00000225964.9:c.750+53T>G ENSP00000225964.5:n.750+53T>G
ENST00000495677.1:n.477+53T>G
NM_000088.3:c.750+53T>G , LRG_1t1:c.750+53T>G NP_000079.2:n.750+53T>G
XM_005257058.3:c.750+53T>G XP_005257115.2:n.750+53T>G
XM_005257059.3:c.750+53T>G XP_005257116.2:n.750+53T>G
XM_011524341.1:c.750+53T>G XP_011522643.1:n.750+53T>G
XM_005257058.4:c.750+53T>G XP_005257115.2:n.750+53T>G
XM_005257059.4:c.750+53T>G XP_005257116.2:n.750+53T>G
NM_000088.4:c.750+53T>G MANE Select NP_000079.2:n.750+53T>G
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