Canonical Allele Identifier: CA914184100
Gene: COL1A1 HGNC NCBI

Linked Data

dbSNP Id: rs10144
gnomAD v2: 17-48262806-C-G
gnomAD v3: 17-50185445-C-G
gnomAD v4: 17-50185445-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185445C>G , CM000679.2:g.50185445C>G GRCh38
NC_000017.10:g.48262806C>G , CM000679.1:g.48262806C>G GRCh37
NC_000017.9:g.45617805C>G NCBI36
NG_007400.1:g.21195G>C , LRG_1:g.21195G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.*57G>C MANE Select ENSP00000225964.6:n.*57G>C
ENST00000225964.9:c.*57G>C ENSP00000225964.5:n.*57G>C
NM_000088.3:c.*57G>C , LRG_1t1:c.*57G>C NP_000079.2:n.*57G>C
XM_005257058.3:c.*57G>C XP_005257115.2:n.*57G>C
XM_005257059.3:c.*57G>C XP_005257116.2:n.*57G>C
XM_011524341.1:c.*57G>C XP_011522643.1:n.*57G>C
XM_005257058.4:c.*57G>C XP_005257115.2:n.*57G>C
XM_005257059.4:c.*57G>C XP_005257116.2:n.*57G>C
NM_000088.4:c.*57G>C MANE Select NP_000079.2:n.*57G>C
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