Canonical Allele Identifier: CA400190421

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 953670
• ClinVar RCV Id: RCV001225999
• dbSNP Id: rs770326881
• MyVariant Identifiers: chr17:g.48262938G>C (hg19) ; chr17:g.50185577G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185577G>C , CM000679.2:g.50185577G>C	GRCh38
NC_000017.10:g.48262938G>C , CM000679.1:g.48262938G>C	GRCh37
NC_000017.9:g.45617937G>C	NCBI36
NG_007400.1:g.21063C>G , LRG_1:g.21063C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4320C>G MANE Select	ENSP00000225964.6:p.Ile1440Met
ENST00000225964.9:c.4320C>G	ENSP00000225964.5:p.Ile1440Met
NM_000088.3:c.4320C>G , LRG_1t1:c.4320C>G	NP_000079.2:p.Ile1440Met
XM_005257058.3:c.4050C>G	XP_005257115.2:p.Ile1350Met
XM_005257059.3:c.3402C>G	XP_005257116.2:p.Ile1134Met
XM_011524341.1:c.4122C>G	XP_011522643.1:p.Ile1374Met
XM_005257058.4:c.4050C>G	XP_005257115.2:p.Ile1350Met
XM_005257059.4:c.3402C>G	XP_005257116.2:p.Ile1134Met
NM_000088.4:c.4320C>G MANE Select	NP_000079.2:p.Ile1440Met