Canonical Allele Identifier: CA400191169

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 451877
• ClinVar RCV Id: RCV000519918
• dbSNP Id: rs1555571589
• MyVariant Identifiers: chr17:g.48263142G>T (hg19) ; chr17:g.50185781G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185781G>T , CM000679.2:g.50185781G>T	GRCh38
NC_000017.10:g.48263142G>T , CM000679.1:g.48263142G>T	GRCh37
NC_000017.9:g.45618141G>T	NCBI36
NG_007400.1:g.20859C>A , LRG_1:g.20859C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4245C>A MANE Select	ENSP00000225964.6:p.Cys1415Ter
ENST00000225964.9:c.4245C>A	ENSP00000225964.5:p.Cys1415Ter
NM_000088.3:c.4245C>A , LRG_1t1:c.4245C>A	NP_000079.2:p.Cys1415Ter
XM_005257058.3:c.3975C>A	XP_005257115.2:p.Cys1325Ter
XM_005257059.3:c.3327C>A	XP_005257116.2:p.Cys1109Ter
XM_011524341.1:c.4047C>A	XP_011522643.1:p.Cys1349Ter
XM_005257058.4:c.3975C>A	XP_005257115.2:p.Cys1325Ter
XM_005257059.4:c.3327C>A	XP_005257116.2:p.Cys1109Ter
NM_000088.4:c.4245C>A MANE Select	NP_000079.2:p.Cys1415Ter