Canonical Allele Identifier: CA400192900

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186022T>C , CM000679.2:g.50186022T>C	GRCh38
NC_000017.10:g.48263383T>C , CM000679.1:g.48263383T>C	GRCh37
NC_000017.9:g.45618382T>C	NCBI36
NG_007400.1:g.20618A>G , LRG_1:g.20618A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.4006-2A>G MANE Select	NP_000079.2:n.4006-2A>G
ENST00000225964.10:c.4006-2A>G MANE Select	ENSP00000225964.6:n.4006-2A>G
NM_000088.3:c.4006-2A>G , LRG_1t1:c.4006-2A>G	NP_000079.2:n.4006-2A>G
ENST00000225964.9:c.4006-2A>G	ENSP00000225964.5:n.4006-2A>G
ENST00000510710.3:n.969A>G
XM_005257058.3:c.3736-2A>G	XP_005257115.2:n.3736-2A>G
XM_005257058.4:c.3736-2A>G	XP_005257115.2:n.3736-2A>G
XM_005257059.3:c.3088-2A>G	XP_005257116.2:n.3088-2A>G
XM_005257059.4:c.3088-2A>G	XP_005257116.2:n.3088-2A>G
XM_011524341.1:c.3808-2A>G	XP_011522643.1:n.3808-2A>G