Canonical Allele Identifier: CA10650543

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 324116
• ClinVar RCV Id: RCV000285300 ; RCV000342628 ; RCV000392202 ; RCV000710774 ; RCV002521115
• dbSNP Id: rs763409550
• gnomAD v2: 17-48275140-T-A
• gnomAD v3: 17-50197779-T-A
• gnomAD v4: 17-50197779-T-A
• COSMIC: COSM3388010
• MyVariant Identifiers: chr17:g.48275140T>A (hg19) ; chr17:g.50197779T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50197779T>A , CM000679.2:g.50197779T>A	GRCh38
NC_000017.10:g.48275140T>A , CM000679.1:g.48275140T>A	GRCh37
NC_000017.9:g.45630139T>A	NCBI36
NG_007400.1:g.8861A>T , LRG_1:g.8861A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.649A>T MANE Select	ENSP00000225964.6:p.Met217Leu
ENST00000225964.9:c.649A>T	ENSP00000225964.5:p.Met217Leu
ENST00000495677.1:n.376A>T
NM_000088.3:c.649A>T , LRG_1t1:c.649A>T	NP_000079.2:p.Met217Leu
XM_005257058.3:c.649A>T	XP_005257115.2:p.Met217Leu
XM_005257059.3:c.649A>T	XP_005257116.2:p.Met217Leu
XM_011524341.1:c.649A>T	XP_011522643.1:p.Met217Leu
XM_005257058.4:c.649A>T	XP_005257115.2:p.Met217Leu
XM_005257059.4:c.649A>T	XP_005257116.2:p.Met217Leu
NM_000088.4:c.649A>T MANE Select	NP_000079.2:p.Met217Leu