Canonical Allele Identifier: CA8644379

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186789T>C , CM000679.2:g.50186789T>C	GRCh38
NC_000017.10:g.48264150T>C , CM000679.1:g.48264150T>C	GRCh37
NC_000017.9:g.45619149T>C	NCBI36
NG_007400.1:g.19851A>G , LRG_1:g.19851A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3665A>G MANE Select	NP_000079.2:p.Asn1222Ser
ENST00000225964.10:c.3665A>G MANE Select	ENSP00000225964.6:p.Asn1222Ser
NM_000088.3:c.3665A>G , LRG_1t1:c.3665A>G	NP_000079.2:p.Asn1222Ser
ENST00000225964.9:c.3665A>G	ENSP00000225964.5:p.Asn1222Ser
ENST00000510710.3:n.334A>G
XM_005257058.3:c.3395A>G	XP_005257115.2:p.Asn1132Ser
XM_005257058.4:c.3395A>G	XP_005257115.2:p.Asn1132Ser
XM_005257059.3:c.2747A>G	XP_005257116.2:p.Asn916Ser
XM_005257059.4:c.2747A>G	XP_005257116.2:p.Asn916Ser
XM_011524341.1:c.3467A>G	XP_011522643.1:p.Asn1156Ser