Canonical Allele Identifier: CA2638709010
Gene: COL1A1 HGNC NCBI

Linked Data

gnomAD v4: 17-50188409-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50188409T>C , CM000679.2:g.50188409T>C GRCh38
NC_000017.10:g.48265770T>C , CM000679.1:g.48265770T>C GRCh37
NC_000017.9:g.45620769T>C NCBI36
NG_007400.1:g.18231A>G , LRG_1:g.18231A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.3207+121A>G MANE Select ENSP00000225964.6:n.3207+121A>G
ENST00000225964.9:c.3207+121A>G ENSP00000225964.5:n.3207+121A>G
ENST00000486572.1:n.146A>G
ENST00000511732.1:n.272A>G
NM_000088.3:c.3207+121A>G , LRG_1t1:c.3207+121A>G NP_000079.2:n.3207+121A>G
XM_005257058.3:c.2937+121A>G XP_005257115.2:n.2937+121A>G
XM_005257059.3:c.2289+121A>G XP_005257116.2:n.2289+121A>G
XM_011524341.1:c.3009+121A>G XP_011522643.1:n.3009+121A>G
XM_005257058.4:c.2937+121A>G XP_005257115.2:n.2937+121A>G
XM_005257059.4:c.2289+121A>G XP_005257116.2:n.2289+121A>G
NM_000088.4:c.3207+121A>G MANE Select NP_000079.2:n.3207+121A>G
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