Canonical Allele Identifier: CA400191791

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1332872
• ClinVar RCV Id: RCV001806446
• dbSNP Id: rs2144531821
• MyVariant Identifiers: chr17:g.48263221A>G (hg19) ; chr17:g.50185860A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185860A>G , CM000679.2:g.50185860A>G	GRCh38
NC_000017.10:g.48263221A>G , CM000679.1:g.48263221A>G	GRCh37
NC_000017.9:g.45618220A>G	NCBI36
NG_007400.1:g.20780T>C , LRG_1:g.20780T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4166T>C MANE Select	ENSP00000225964.6:p.Leu1389Pro
ENST00000225964.9:c.4166T>C	ENSP00000225964.5:p.Leu1389Pro
ENST00000510710.3:n.1131T>C
NM_000088.3:c.4166T>C , LRG_1t1:c.4166T>C	NP_000079.2:p.Leu1389Pro
XM_005257058.3:c.3896T>C	XP_005257115.2:p.Leu1299Pro
XM_005257059.3:c.3248T>C	XP_005257116.2:p.Leu1083Pro
XM_011524341.1:c.3968T>C	XP_011522643.1:p.Leu1323Pro
XM_005257058.4:c.3896T>C	XP_005257115.2:p.Leu1299Pro
XM_005257059.4:c.3248T>C	XP_005257116.2:p.Leu1083Pro
NM_000088.4:c.4166T>C MANE Select	NP_000079.2:p.Leu1389Pro