Canonical Allele Identifier: CA260271
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 35899
ClinVar RCV Id: RCV000029554
dbSNP Id: rs193922138
MyVariant Identifiers: chr17:g.48272657G>C (hg19) chr17:g.50195296G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50195296G>C , CM000679.2:g.50195296G>C GRCh38
NC_000017.10:g.48272657G>C , CM000679.1:g.48272657G>C GRCh37
NC_000017.9:g.45627656G>C NCBI36
NG_007400.1:g.11344C>G , LRG_1:g.11344C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.1235C>G MANE Select ENSP00000225964.6:p.Pro412Arg
ENST00000225964.9:c.1235C>G ENSP00000225964.5:p.Pro412Arg
ENST00000471344.1:n.179C>G
NM_000088.3:c.1235C>G , LRG_1t1:c.1235C>G NP_000079.2:p.Pro412Arg
XM_005257058.3:c.1235C>G XP_005257115.2:p.Pro412Arg
XM_005257059.3:c.957+1018C>G XP_005257116.2:n.957+1018C>G
XM_011524341.1:c.1037C>G XP_011522643.1:p.Pro346Arg
XM_005257058.4:c.1235C>G XP_005257115.2:p.Pro412Arg
XM_005257059.4:c.957+1018C>G XP_005257116.2:n.957+1018C>G
NM_000088.4:c.1235C>G MANE Select NP_000079.2:p.Pro412Arg
Search 100 bp 5'
Search 100 bp 3'