Canonical Allele Identifier: CA400191894

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 526847
• ClinVar RCV Id: RCV000631470
• dbSNP Id: rs1555571631
• MyVariant Identifiers: chr17:g.48263239T>C (hg19) ; chr17:g.50185878T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185878T>C , CM000679.2:g.50185878T>C	GRCh38
NC_000017.10:g.48263239T>C , CM000679.1:g.48263239T>C	GRCh37
NC_000017.9:g.45618238T>C	NCBI36
NG_007400.1:g.20762A>G , LRG_1:g.20762A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4148A>G MANE Select	ENSP00000225964.6:p.Asn1383Ser
ENST00000225964.9:c.4148A>G	ENSP00000225964.5:p.Asn1383Ser
ENST00000510710.3:n.1113A>G
NM_000088.3:c.4148A>G , LRG_1t1:c.4148A>G	NP_000079.2:p.Asn1383Ser
XM_005257058.3:c.3878A>G	XP_005257115.2:p.Asn1293Ser
XM_005257059.3:c.3230A>G	XP_005257116.2:p.Asn1077Ser
XM_011524341.1:c.3950A>G	XP_011522643.1:p.Asn1317Ser
XM_005257058.4:c.3878A>G	XP_005257115.2:p.Asn1293Ser
XM_005257059.4:c.3230A>G	XP_005257116.2:p.Asn1077Ser
NM_000088.4:c.4148A>G MANE Select	NP_000079.2:p.Asn1383Ser