Canonical Allele Identifier: CA291545243

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1420638
• ClinVar RCV Id: RCV001914424
• dbSNP Id: rs67682641
• MyVariant Identifiers: chr17:g.48271736C>A (hg19) ; chr17:g.50194375C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194375C>A , CM000679.2:g.50194375C>A	GRCh38
NC_000017.10:g.48271736C>A , CM000679.1:g.48271736C>A	GRCh37
NC_000017.9:g.45626735C>A	NCBI36
NG_007400.1:g.12265G>T , LRG_1:g.12265G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.1588G>T MANE Select	ENSP00000225964.6:p.Gly530Cys
ENST00000225964.9:c.1588G>T	ENSP00000225964.5:p.Gly530Cys
ENST00000471344.1:n.532G>T
NM_000088.3:c.1588G>T , LRG_1t1:c.1588G>T	NP_000079.2:p.Gly530Cys
XM_005257058.3:c.1588G>T	XP_005257115.2:p.Gly530Cys
XM_005257059.3:c.958-1682G>T	XP_005257116.2:n.958-1682G>T
XM_011524341.1:c.1390G>T	XP_011522643.1:p.Gly464Cys
XM_005257058.4:c.1588G>T	XP_005257115.2:p.Gly530Cys
XM_005257059.4:c.958-1682G>T	XP_005257116.2:n.958-1682G>T
NM_000088.4:c.1588G>T MANE Select	NP_000079.2:p.Gly530Cys