Canonical Allele Identifier: CA2638704051
Gene: COL1A1 HGNC NCBI

Linked Data

gnomAD v4: 17-50185378-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185378G>T , CM000679.2:g.50185378G>T GRCh38
NC_000017.10:g.48262739G>T , CM000679.1:g.48262739G>T GRCh37
NC_000017.9:g.45617738G>T NCBI36
NG_007400.1:g.21262C>A , LRG_1:g.21262C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.*124C>A MANE Select ENSP00000225964.6:n.*124C>A
ENST00000225964.9:c.*124C>A ENSP00000225964.5:n.*124C>A
NM_000088.3:c.*124C>A , LRG_1t1:c.*124C>A NP_000079.2:n.*124C>A
XM_005257058.3:c.*124C>A XP_005257115.2:n.*124C>A
XM_005257059.3:c.*124C>A XP_005257116.2:n.*124C>A
XM_011524341.1:c.*124C>A XP_011522643.1:n.*124C>A
XM_005257058.4:c.*124C>A XP_005257115.2:n.*124C>A
XM_005257059.4:c.*124C>A XP_005257116.2:n.*124C>A
NM_000088.4:c.*124C>A MANE Select NP_000079.2:n.*124C>A
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