Canonical Allele Identifier: CA291542763

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 953286
• ClinVar RCV Id: RCV001225554 ; RCV004548076
• dbSNP Id: rs72656351
• MyVariant Identifiers: chr17:g.48262937C>A (hg19) ; chr17:g.50185576C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185576C>A , CM000679.2:g.50185576C>A	GRCh38
NC_000017.10:g.48262937C>A , CM000679.1:g.48262937C>A	GRCh37
NC_000017.9:g.45617936C>A	NCBI36
NG_007400.1:g.21064G>T , LRG_1:g.21064G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4321G>T MANE Select	ENSP00000225964.6:p.Asp1441Tyr
ENST00000225964.9:c.4321G>T	ENSP00000225964.5:p.Asp1441Tyr
NM_000088.3:c.4321G>T , LRG_1t1:c.4321G>T	NP_000079.2:p.Asp1441Tyr
XM_005257058.3:c.4051G>T	XP_005257115.2:p.Asp1351Tyr
XM_005257059.3:c.3403G>T	XP_005257116.2:p.Asp1135Tyr
XM_011524341.1:c.4123G>T	XP_011522643.1:p.Asp1375Tyr
XM_005257058.4:c.4051G>T	XP_005257115.2:p.Asp1351Tyr
XM_005257059.4:c.3403G>T	XP_005257116.2:p.Asp1135Tyr
NM_000088.4:c.4321G>T MANE Select	NP_000079.2:p.Asp1441Tyr