Canonical Allele Identifier: CA8644454

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 456770
• ClinVar RCV Id: RCV000530956 ; RCV001125394 ; RCV001124398 ; RCV002279333 ; RCV001125395 ; RCV002456053
• dbSNP Id: rs148737409
• ExAC: 17:48264845 T / G
• gnomAD v2: 17-48264845-T-G
• gnomAD v3: 17-50187484-T-G
• gnomAD v4: 17-50187484-T-G
• MyVariant Identifiers: chr17:g.48264845T>G (hg19) ; chr17:g.50187484T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50187484T>G , CM000679.2:g.50187484T>G	GRCh38
NC_000017.10:g.48264845T>G , CM000679.1:g.48264845T>G	GRCh37
NC_000017.9:g.45619844T>G	NCBI36
NG_007400.1:g.19156A>C , LRG_1:g.19156A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3423A>C MANE Select	ENSP00000225964.6:p.Arg1141=
ENST00000225964.9:c.3423A>C	ENSP00000225964.5:p.Arg1141=
NM_000088.3:c.3423A>C , LRG_1t1:c.3423A>C	NP_000079.2:p.Arg1141=
XM_005257058.3:c.3153A>C	XP_005257115.2:p.Arg1051=
XM_005257059.3:c.2505A>C	XP_005257116.2:p.Arg835=
XM_011524341.1:c.3225A>C	XP_011522643.1:p.Arg1075=
XM_005257058.4:c.3153A>C	XP_005257115.2:p.Arg1051=
XM_005257059.4:c.2505A>C	XP_005257116.2:p.Arg835=
NM_000088.4:c.3423A>C MANE Select	NP_000079.2:p.Arg1141=