Canonical Allele Identifier: CA400217704

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2724668
• ClinVar RCV Id: RCV003518478
• dbSNP Id: rs1375038120
• gnomAD v3: 17-50194752-G-C
• gnomAD v4: 17-50194752-G-C
• MyVariant Identifiers: chr17:g.48272113G>C (hg19) ; chr17:g.50194752G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194752G>C , CM000679.2:g.50194752G>C	GRCh38
NC_000017.10:g.48272113G>C , CM000679.1:g.48272113G>C	GRCh37
NC_000017.9:g.45627112G>C	NCBI36
NG_007400.1:g.11888C>G , LRG_1:g.11888C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1430C>G MANE Select	ENSP00000225964.6:p.Pro477Arg
ENST00000225964.9:c.1430C>G	ENSP00000225964.5:p.Pro477Arg
ENST00000471344.1:n.374C>G
NM_000088.3:c.1430C>G , LRG_1t1:c.1430C>G	NP_000079.2:p.Pro477Arg
XM_005257058.3:c.1430C>G	XP_005257115.2:p.Pro477Arg
XM_005257059.3:c.957+1562C>G	XP_005257116.2:n.957+1562C>G
XM_011524341.1:c.1232C>G	XP_011522643.1:p.Pro411Arg
XM_005257058.4:c.1430C>G	XP_005257115.2:p.Pro477Arg
XM_005257059.4:c.957+1562C>G	XP_005257116.2:n.957+1562C>G
NM_000088.4:c.1430C>G MANE Select	NP_000079.2:p.Pro477Arg