Canonical Allele Identifier: CA257878

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 17318
• ClinVar RCV Id: RCV000018859 ; RCV000657897
• dbSNP Id: rs72656321
• MyVariant Identifiers: chr17:g.48264455C>A (hg19) ; chr17:g.50187094C>A (hg38)
• PubMed: PMID:1613761

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50187094C>A , CM000679.2:g.50187094C>A	GRCh38
NC_000017.10:g.48264455C>A , CM000679.1:g.48264455C>A	GRCh37
NC_000017.9:g.45619454C>A	NCBI36
NG_007400.1:g.19546G>T , LRG_1:g.19546G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.3452G>T MANE Select	ENSP00000225964.6:p.Gly1151Val
ENST00000225964.9:c.3452G>T	ENSP00000225964.5:p.Gly1151Val
ENST00000510710.3:n.29G>T
NM_000088.3:c.3452G>T , LRG_1t1:c.3452G>T	NP_000079.2:p.Gly1151Val
XM_005257058.3:c.3182G>T	XP_005257115.2:p.Gly1061Val
XM_005257059.3:c.2534G>T	XP_005257116.2:p.Gly845Val
XM_011524341.1:c.3254G>T	XP_011522643.1:p.Gly1085Val
XM_005257058.4:c.3182G>T	XP_005257115.2:p.Gly1061Val
XM_005257059.4:c.2534G>T	XP_005257116.2:p.Gly845Val
NM_000088.4:c.3452G>T MANE Select	NP_000079.2:p.Gly1151Val