Canonical Allele Identifier: CA772783535
Gene: COL1A1 HGNC NCBI

Linked Data

dbSNP Id: rs1409295351
MyVariant Identifiers: chr17:g.48266212G>T (hg19) chr17:g.50188851G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50188851G>T , CM000679.2:g.50188851G>T GRCh38
NC_000017.10:g.48266212G>T , CM000679.1:g.48266212G>T GRCh37
NC_000017.9:g.45621211G>T NCBI36
NG_007400.1:g.17789C>A , LRG_1:g.17789C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.3045+52C>A MANE Select ENSP00000225964.6:n.3045+52C>A
ENST00000225964.9:c.3045+52C>A ENSP00000225964.5:n.3045+52C>A
NM_000088.3:c.3045+52C>A , LRG_1t1:c.3045+52C>A NP_000079.2:n.3045+52C>A
XM_005257058.3:c.2775+52C>A XP_005257115.2:n.2775+52C>A
XM_005257059.3:c.2127+52C>A XP_005257116.2:n.2127+52C>A
XM_011524341.1:c.2847+52C>A XP_011522643.1:n.2847+52C>A
XM_005257058.4:c.2775+52C>A XP_005257115.2:n.2775+52C>A
XM_005257059.4:c.2127+52C>A XP_005257116.2:n.2127+52C>A
NM_000088.4:c.3045+52C>A MANE Select NP_000079.2:n.3045+52C>A
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