Canonical Allele Identifier: CA291543061
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 860618
ClinVar RCV Id: RCV002320336 RCV001066956
dbSNP Id: rs547798347
gnomAD v2: 17-48265922-G-A
gnomAD v3: 17-50188561-G-A
gnomAD v4: 17-50188561-G-A
MyVariant Identifiers: chr17:g.48265922G>A (hg19) chr17:g.50188561G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50188561G>A , CM000679.2:g.50188561G>A GRCh38
NC_000017.10:g.48265922G>A , CM000679.1:g.48265922G>A GRCh37
NC_000017.9:g.45620921G>A NCBI36
NG_007400.1:g.18079C>T , LRG_1:g.18079C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.3176C>T MANE Select ENSP00000225964.6:p.Pro1059Leu
ENST00000225964.9:c.3176C>T ENSP00000225964.5:p.Pro1059Leu
ENST00000511732.1:n.120C>T
NM_000088.3:c.3176C>T , LRG_1t1:c.3176C>T NP_000079.2:p.Pro1059Leu
XM_005257058.3:c.2906C>T XP_005257115.2:p.Pro969Leu
XM_005257059.3:c.2258C>T XP_005257116.2:p.Pro753Leu
XM_011524341.1:c.2978C>T XP_011522643.1:p.Pro993Leu
XM_005257058.4:c.2906C>T XP_005257115.2:p.Pro969Leu
XM_005257059.4:c.2258C>T XP_005257116.2:p.Pro753Leu
NM_000088.4:c.3176C>T MANE Select NP_000079.2:p.Pro1059Leu
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