Canonical Allele Identifier: CA291542868

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186664T>C , CM000679.2:g.50186664T>C	GRCh38
NC_000017.10:g.48264025T>C , CM000679.1:g.48264025T>C	GRCh37
NC_000017.9:g.45619024T>C	NCBI36
NG_007400.1:g.19976A>G , LRG_1:g.19976A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3790A>G MANE Select	NP_000079.2:p.Met1264Val
ENST00000225964.10:c.3790A>G MANE Select	ENSP00000225964.6:p.Met1264Val
NM_000088.3:c.3790A>G , LRG_1t1:c.3790A>G	NP_000079.2:p.Met1264Val
ENST00000225964.9:c.3790A>G	ENSP00000225964.5:p.Met1264Val
ENST00000510710.3:n.459A>G
XM_005257058.3:c.3520A>G	XP_005257115.2:p.Met1174Val
XM_005257058.4:c.3520A>G	XP_005257115.2:p.Met1174Val
XM_005257059.3:c.2872A>G	XP_005257116.2:p.Met958Val
XM_005257059.4:c.2872A>G	XP_005257116.2:p.Met958Val
XM_011524341.1:c.3592A>G	XP_011522643.1:p.Met1198Val