Canonical Allele Identifier: CA400191292

Gene: COL1A1

Linked Data

• dbSNP Id: rs1361754535
• gnomAD v2: 17-48263153-C-G
• gnomAD v4: 17-50185792-C-G
• MyVariant Identifiers: chr17:g.48263153C>G (hg19) ; chr17:g.50185792C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185792C>G , CM000679.2:g.50185792C>G	GRCh38
NC_000017.10:g.48263153C>G , CM000679.1:g.48263153C>G	GRCh37
NC_000017.9:g.45618152C>G	NCBI36
NG_007400.1:g.20848G>C , LRG_1:g.20848G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4234G>C MANE Select	ENSP00000225964.6:p.Val1412Leu
ENST00000225964.9:c.4234G>C	ENSP00000225964.5:p.Val1412Leu
NM_000088.3:c.4234G>C , LRG_1t1:c.4234G>C	NP_000079.2:p.Val1412Leu
XM_005257058.3:c.3964G>C	XP_005257115.2:p.Val1322Leu
XM_005257059.3:c.3316G>C	XP_005257116.2:p.Val1106Leu
XM_011524341.1:c.4036G>C	XP_011522643.1:p.Val1346Leu
XM_005257058.4:c.3964G>C	XP_005257115.2:p.Val1322Leu
XM_005257059.4:c.3316G>C	XP_005257116.2:p.Val1106Leu
NM_000088.4:c.4234G>C MANE Select	NP_000079.2:p.Val1412Leu