Canonical Allele Identifier: CA16043047
Gene: COL1A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50188149C>T , CM000679.2:g.50188149C>T GRCh38
NC_000017.10:g.48265510C>T , CM000679.1:g.48265510C>T GRCh37
NC_000017.9:g.45620509C>T NCBI36
NG_007400.1:g.18491G>A , LRG_1:g.18491G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.3208G>A MANE Select ENSP00000225964.6:p.Gly1070Ser
ENST00000225964.9:c.3208G>A ENSP00000225964.5:p.Gly1070Ser
ENST00000486572.1:n.406G>A
ENST00000511732.1:n.532G>A
NM_000088.3:c.3208G>A , LRG_1t1:c.3208G>A NP_000079.2:p.Gly1070Ser
XM_005257058.3:c.2938G>A XP_005257115.2:p.Gly980Ser
XM_005257059.3:c.2290G>A XP_005257116.2:p.Gly764Ser
XM_011524341.1:c.3010G>A XP_011522643.1:p.Gly1004Ser
XM_005257058.4:c.2938G>A XP_005257115.2:p.Gly980Ser
XM_005257059.4:c.2290G>A XP_005257116.2:p.Gly764Ser
NM_000088.4:c.3208G>A MANE Select NP_000079.2:p.Gly1070Ser
Search 100 bp 5'
Search 100 bp 3'