Canonical Allele Identifier: CA400191234

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 425628
• ClinVar RCV Id: RCV000528863 ; RCV000490751
• dbSNP Id: rs754555549
• MyVariant Identifiers: chr17:g.48263148A>T (hg19) ; chr17:g.50185787A>T (hg38)
• PubMed: PMID:25944380

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185787A>T , CM000679.2:g.50185787A>T	GRCh38
NC_000017.10:g.48263148A>T , CM000679.1:g.48263148A>T	GRCh37
NC_000017.9:g.45618147A>T	NCBI36
NG_007400.1:g.20853T>A , LRG_1:g.20853T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4239T>A MANE Select	ENSP00000225964.6:p.Asp1413Glu
ENST00000225964.9:c.4239T>A	ENSP00000225964.5:p.Asp1413Glu
NM_000088.3:c.4239T>A , LRG_1t1:c.4239T>A	NP_000079.2:p.Asp1413Glu
XM_005257058.3:c.3969T>A	XP_005257115.2:p.Asp1323Glu
XM_005257059.3:c.3321T>A	XP_005257116.2:p.Asp1107Glu
XM_011524341.1:c.4041T>A	XP_011522643.1:p.Asp1347Glu
XM_005257058.4:c.3969T>A	XP_005257115.2:p.Asp1323Glu
XM_005257059.4:c.3321T>A	XP_005257116.2:p.Asp1107Glu
NM_000088.4:c.4239T>A MANE Select	NP_000079.2:p.Asp1413Glu