Canonical Allele Identifier: CA500850574
Gene: COL1A1 HGNC NCBI

Linked Data

gnomAD v4: 17-50194799-G-T
MyVariant Identifiers: chr17:g.48272160G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50194799G>T , CM000679.2:g.50194799G>T GRCh38
NC_000017.10:g.48272160G>T , CM000679.1:g.48272160G>T GRCh37
NC_000017.9:g.45627159G>T NCBI36
NG_007400.1:g.11841C>A , LRG_1:g.11841C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1383C>A MANE Select ENSP00000225964.6:p.Gly461=
ENST00000225964.9:c.1383C>A ENSP00000225964.5:p.Gly461=
ENST00000471344.1:n.327C>A
NM_000088.3:c.1383C>A , LRG_1t1:c.1383C>A NP_000079.2:p.Gly461=
XM_005257058.3:c.1383C>A XP_005257115.2:p.Gly461=
XM_005257059.3:c.957+1515C>A XP_005257116.2:n.957+1515C>A
XM_011524341.1:c.1185C>A XP_011522643.1:p.Gly395=
XM_005257058.4:c.1383C>A XP_005257115.2:p.Gly461=
XM_005257059.4:c.957+1515C>A XP_005257116.2:n.957+1515C>A
NM_000088.4:c.1383C>A MANE Select NP_000079.2:p.Gly461=
Search 100 bp 5'
Search 100 bp 3'