Canonical Allele Identifier: CA3892189

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75095149G>C , CM000668.2:g.75095149G>C	GRCh38
NC_000006.11:g.75804865G>C , CM000668.1:g.75804865G>C	GRCh37
NC_000006.10:g.75861585G>C	NCBI36
NG_042181.1:g.115759C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.8608C>G MANE Select	NP_004361.3:p.Pro2870Ala
ENST00000322507.13:c.8608C>G MANE Select	ENSP00000325146.8:p.Pro2870Ala
NM_004370.5:c.8608C>G	NP_004361.3:p.Pro2870Ala
NM_080645.2:c.5116C>G	NP_542376.2:p.Pro1706Ala
NM_080645.3:c.5116C>G	NP_542376.2:p.Pro1706Ala
ENST00000322507.12:c.8608C>G	ENSP00000325146.8:p.Pro2870Ala
ENST00000345356.10:c.5116C>G	ENSP00000305147.9:p.Pro1706Ala
ENST00000416123.6:c.8380C>G	ENSP00000412864.2:p.Pro2794Ala
ENST00000425443.6:c.1522C>G	ENSP00000399812.2:p.Pro508Ala
ENST00000483888.6:c.8596C>G	ENSP00000421216.1:p.Pro2866Ala
ENST00000511023.1:n.223C>G
ENST00000615798.4:c.5041C>G	ENSP00000483232.1:p.Pro1681Ala
XM_011535434.1:c.8608C>G	XP_011533736.1:p.Pro2870Ala
XM_011535435.1:c.8335C>G	XP_011533737.1:p.Pro2779Ala
XM_011535436.1:c.5116C>G	XP_011533738.1:p.Pro1706Ala
XM_011535436.2:c.5116C>G	XP_011533738.1:p.Pro1706Ala
XM_017010252.2:c.8572C>G	XP_016865741.1:p.Pro2858Ala