Canonical Allele Identifier: CA16607368

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 392158
• ClinVar RCV Id: RCV000442366
• dbSNP Id: rs946705319
• MyVariant Identifiers: chr17:g.48275836A>T (hg19) ; chr17:g.50198475A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198475A>T , CM000679.2:g.50198475A>T	GRCh38
NC_000017.10:g.48275836A>T , CM000679.1:g.48275836A>T	GRCh37
NC_000017.9:g.45630835A>T	NCBI36
NG_007400.1:g.8165T>A , LRG_1:g.8165T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.501T>A MANE Select	ENSP00000225964.6:p.Tyr167Ter
ENST00000225964.9:c.501T>A	ENSP00000225964.5:p.Tyr167Ter
ENST00000495677.1:n.228T>A
NM_000088.3:c.501T>A , LRG_1t1:c.501T>A	NP_000079.2:p.Tyr167Ter
XM_005257058.3:c.501T>A	XP_005257115.2:p.Tyr167Ter
XM_005257059.3:c.501T>A	XP_005257116.2:p.Tyr167Ter
XM_011524341.1:c.501T>A	XP_011522643.1:p.Tyr167Ter
XM_005257058.4:c.501T>A	XP_005257115.2:p.Tyr167Ter
XM_005257059.4:c.501T>A	XP_005257116.2:p.Tyr167Ter
NM_000088.4:c.501T>A MANE Select	NP_000079.2:p.Tyr167Ter