Canonical Allele Identifier: CA8644790

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50190096G>C , CM000679.2:g.50190096G>C	GRCh38
NC_000017.10:g.48267457G>C , CM000679.1:g.48267457G>C	GRCh37
NC_000017.9:g.45622456G>C	NCBI36
NG_007400.1:g.16544C>G , LRG_1:g.16544C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.2464C>G MANE Select	NP_000079.2:p.Gln822Glu
ENST00000225964.10:c.2464C>G MANE Select	ENSP00000225964.6:p.Gln822Glu
NM_000088.3:c.2464C>G , LRG_1t1:c.2464C>G	NP_000079.2:p.Gln822Glu
ENST00000225964.9:c.2464C>G	ENSP00000225964.5:p.Gln822Glu
XM_005257058.3:c.2464C>G	XP_005257115.2:p.Gln822Glu
XM_005257058.4:c.2464C>G	XP_005257115.2:p.Gln822Glu
XM_005257059.3:c.1546C>G	XP_005257116.2:p.Gln516Glu
XM_005257059.4:c.1546C>G	XP_005257116.2:p.Gln516Glu
XM_011524341.1:c.2266C>G	XP_011522643.1:p.Gln756Glu